SNP Links for Protein (Select 209862849) - SNP

Select item 14909327621.

rs1490932762 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:17719357 (GRCh38)
X:17737477 (GRCh37)
Canonical SPDI:: NC_000023.11:17719356:G:A
Gene:: NHS (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000078/1 (TOMMO)
A=0.000685/2 (KOREAN)
HGVS:: NC_000023.11:g.17719357G>A, NC_000023.10:g.17737477G>A, NG_011553.2:g.348938G>A, NM_001136024.4:c.335G>A, NM_001136024.3:c.335G>A, NM_001136024.2:c.335G>A, NM_001291867.2:c.866G>A, NM_001291867.1:c.866G>A, XM_047442140.1:c.527G>A, NP_001129496.1:p.Arg112His, NP_001278796.1:p.Arg289His, XP_047298096.1:p.Arg176His

Select item 14909093082.

rs1490909308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:17732087 (GRCh38)
X:17750207 (GRCh37)
Canonical SPDI:: NC_000023.11:17732086:C:T
Gene:: NHS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.17732087C>T, NC_000023.10:g.17750207C>T, NG_011553.2:g.361668C>T, NM_198270.4:c.4516C>T, NM_198270.3:c.4516C>T, NM_198270.2:c.4516C>T, NM_001136024.4:c.4048C>T, NM_001136024.3:c.4048C>T, NM_001136024.2:c.4048C>T, NM_001291867.2:c.4579C>T, NM_001291867.1:c.4579C>T, NM_001291868.2:c.3985C>T, NM_001291868.1:c.3985C>T, XM_011545528.3:c.3631C>T, XM_011545528.2:c.3631C>T, XM_011545528.1:c.3631C>T, XM_047442140.1:c.4240C>T, NP_938011.1:p.Arg1506Cys, NP_001129496.1:p.Arg1350Cys, NP_001278796.1:p.Arg1527Cys, NP_001278797.1:p.Arg1329Cys, XP_011543830.1:p.Arg1211Cys, XP_047298096.1:p.Arg1414Cys

Select item 14890412853.

rs1489041285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:17725845 (GRCh38)
X:17743965 (GRCh37)
Canonical SPDI:: NC_000023.11:17725844:G:A
Gene:: NHS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.17725845G>A, NC_000023.10:g.17743965G>A, NG_011553.2:g.355426G>A, NM_198270.4:c.1676G>A, NM_198270.3:c.1676G>A, NM_198270.2:c.1676G>A, NM_001136024.4:c.1208G>A, NM_001136024.3:c.1208G>A, NM_001136024.2:c.1208G>A, NM_001291867.2:c.1739G>A, NM_001291867.1:c.1739G>A, NM_001291868.2:c.1145G>A, NM_001291868.1:c.1145G>A, XM_011545528.3:c.791G>A, XM_011545528.2:c.791G>A, XM_011545528.1:c.791G>A, XM_047442140.1:c.1400G>A, NP_938011.1:p.Gly559Glu, NP_001129496.1:p.Gly403Glu, NP_001278796.1:p.Gly580Glu, NP_001278797.1:p.Gly382Glu, XP_011543830.1:p.Gly264Glu, XP_047298096.1:p.Gly467Glu

Select item 14880629434.

rs1488062943 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:17728128 (GRCh38)
X:17746248 (GRCh37)
Canonical SPDI:: NC_000023.11:17728127:A:C
Gene:: NHS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.17728128A>C, NC_000023.10:g.17746248A>C, NG_011553.2:g.357709A>C, NM_198270.4:c.3959A>C, NM_198270.3:c.3959A>C, NM_198270.2:c.3959A>C, NM_001136024.4:c.3491A>C, NM_001136024.3:c.3491A>C, NM_001136024.2:c.3491A>C, NM_001291867.2:c.4022A>C, NM_001291867.1:c.4022A>C, NM_001291868.2:c.3428A>C, NM_001291868.1:c.3428A>C, XM_011545528.3:c.3074A>C, XM_011545528.2:c.3074A>C, XM_011545528.1:c.3074A>C, XM_047442140.1:c.3683A>C, NP_938011.1:p.Lys1320Thr, NP_001129496.1:p.Lys1164Thr, NP_001278796.1:p.Lys1341Thr, NP_001278797.1:p.Lys1143Thr, XP_011543830.1:p.Lys1025Thr, XP_047298096.1:p.Lys1228Thr

Select item 14880331655.

rs1488033165 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:17726895 (GRCh38)
X:17745015 (GRCh37)
Canonical SPDI:: NC_000023.11:17726894:C:T
Gene:: NHS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.17726895C>T, NC_000023.10:g.17745015C>T, NG_011553.2:g.356476C>T, NM_198270.4:c.2726C>T, NM_198270.3:c.2726C>T, NM_198270.2:c.2726C>T, NM_001136024.4:c.2258C>T, NM_001136024.3:c.2258C>T, NM_001136024.2:c.2258C>T, NM_001291867.2:c.2789C>T, NM_001291867.1:c.2789C>T, NM_001291868.2:c.2195C>T, NM_001291868.1:c.2195C>T, XM_011545528.3:c.1841C>T, XM_011545528.2:c.1841C>T, XM_011545528.1:c.1841C>T, XM_047442140.1:c.2450C>T, NP_938011.1:p.Ser909Leu, NP_001129496.1:p.Ser753Leu, NP_001278796.1:p.Ser930Leu, NP_001278797.1:p.Ser732Leu, XP_011543830.1:p.Ser614Leu, XP_047298096.1:p.Ser817Leu

Select item 14873236996.

rs1487323699 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:17731875 (GRCh38)
X:17749995 (GRCh37)
Canonical SPDI:: NC_000023.11:17731874:T:A
Gene:: NHS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.17731875T>A, NC_000023.10:g.17749995T>A, NG_011553.2:g.361456T>A, NM_198270.4:c.4304T>A, NM_198270.3:c.4304T>A, NM_198270.2:c.4304T>A, NM_001136024.4:c.3836T>A, NM_001136024.3:c.3836T>A, NM_001136024.2:c.3836T>A, NM_001291867.2:c.4367T>A, NM_001291867.1:c.4367T>A, NM_001291868.2:c.3773T>A, NM_001291868.1:c.3773T>A, XM_011545528.3:c.3419T>A, XM_011545528.2:c.3419T>A, XM_011545528.1:c.3419T>A, XM_047442140.1:c.4028T>A, NP_938011.1:p.Leu1435His, NP_001129496.1:p.Leu1279His, NP_001278796.1:p.Leu1456His, NP_001278797.1:p.Leu1258His, XP_011543830.1:p.Leu1140His, XP_047298096.1:p.Leu1343His

Select item 14860351117.

rs1486035111 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:17726438 (GRCh38)
X:17744558 (GRCh37)
Canonical SPDI:: NC_000023.11:17726437:T:C
Gene:: NHS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.17726438T>C, NC_000023.10:g.17744558T>C, NG_011553.2:g.356019T>C, NM_198270.4:c.2269T>C, NM_198270.3:c.2269T>C, NM_198270.2:c.2269T>C, NM_001136024.4:c.1801T>C, NM_001136024.3:c.1801T>C, NM_001136024.2:c.1801T>C, NM_001291867.2:c.2332T>C, NM_001291867.1:c.2332T>C, NM_001291868.2:c.1738T>C, NM_001291868.1:c.1738T>C, XM_011545528.3:c.1384T>C, XM_011545528.2:c.1384T>C, XM_011545528.1:c.1384T>C, XM_047442140.1:c.1993T>C, NP_938011.1:p.Ser757Pro, NP_001129496.1:p.Ser601Pro, NP_001278796.1:p.Ser778Pro, NP_001278797.1:p.Ser580Pro, XP_011543830.1:p.Ser462Pro, XP_047298096.1:p.Ser665Pro

Select item 14850888468.

rs1485088846 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:17725536 (GRCh38)
X:17743656 (GRCh37)
Canonical SPDI:: NC_000023.11:17725535:C:T
Gene:: NHS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.17725536C>T, NC_000023.10:g.17743656C>T, NG_011553.2:g.355117C>T, NM_198270.4:c.1367C>T, NM_198270.3:c.1367C>T, NM_198270.2:c.1367C>T, NM_001136024.4:c.899C>T, NM_001136024.3:c.899C>T, NM_001136024.2:c.899C>T, NM_001291867.2:c.1430C>T, NM_001291867.1:c.1430C>T, NM_001291868.2:c.836C>T, NM_001291868.1:c.836C>T, XM_011545528.3:c.482C>T, XM_011545528.2:c.482C>T, XM_011545528.1:c.482C>T, XM_047442140.1:c.1091C>T, NP_938011.1:p.Ser456Phe, NP_001129496.1:p.Ser300Phe, NP_001278796.1:p.Ser477Phe, NP_001278797.1:p.Ser279Phe, XP_011543830.1:p.Ser161Phe, XP_047298096.1:p.Ser364Phe

Select item 14850576359.

rs1485057635 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:17727325 (GRCh38)
X:17745445 (GRCh37)
Canonical SPDI:: NC_000023.11:17727324:A:T
Gene:: NHS (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.17727325A>T, NC_000023.10:g.17745445A>T, NG_011553.2:g.356906A>T, NM_198270.4:c.3156A>T, NM_198270.3:c.3156A>T, NM_198270.2:c.3156A>T, NM_001136024.4:c.2688A>T, NM_001136024.3:c.2688A>T, NM_001136024.2:c.2688A>T, NM_001291867.2:c.3219A>T, NM_001291867.1:c.3219A>T, NM_001291868.2:c.2625A>T, NM_001291868.1:c.2625A>T, XM_011545528.3:c.2271A>T, XM_011545528.2:c.2271A>T, XM_011545528.1:c.2271A>T, XM_047442140.1:c.2880A>T

Select item 148460167310.

rs1484601673 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: X:17725705 (GRCh38)
X:17743825 (GRCh37)
Canonical SPDI:: NC_000023.11:17725704:TTTT:TTT
Gene:: NHS (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: TTT=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.17725708del, NC_000023.10:g.17743828del, NG_011553.2:g.355289del, NM_198270.4:c.1539del, NM_198270.3:c.1539del, NM_198270.2:c.1539del, NM_001136024.4:c.1071del, NM_001136024.3:c.1071del, NM_001136024.2:c.1071del, NM_001291867.2:c.1602del, NM_001291867.1:c.1602del, NM_001291868.2:c.1008del, NM_001291868.1:c.1008del, XM_011545528.3:c.654del, XM_011545528.2:c.654del, XM_011545528.1:c.654del, XM_047442140.1:c.1263del, NP_938011.1:p.Phe513fs, NP_001129496.1:p.Phe357fs, NP_001278796.1:p.Phe534fs, NP_001278797.1:p.Phe336fs, XP_011543830.1:p.Phe218fs, XP_047298096.1:p.Phe421fs

Select item 148361037311.

rs1483610373 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:17726775 (GRCh38)
X:17744895 (GRCh37)
Canonical SPDI:: NC_000023.11:17726774:T:C
Gene:: NHS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.17726775T>C, NC_000023.10:g.17744895T>C, NG_011553.2:g.356356T>C, NM_198270.4:c.2606T>C, NM_198270.3:c.2606T>C, NM_198270.2:c.2606T>C, NM_001136024.4:c.2138T>C, NM_001136024.3:c.2138T>C, NM_001136024.2:c.2138T>C, NM_001291867.2:c.2669T>C, NM_001291867.1:c.2669T>C, NM_001291868.2:c.2075T>C, NM_001291868.1:c.2075T>C, XM_011545528.3:c.1721T>C, XM_011545528.2:c.1721T>C, XM_011545528.1:c.1721T>C, XM_047442140.1:c.2330T>C, NP_938011.1:p.Leu869Pro, NP_001129496.1:p.Leu713Pro, NP_001278796.1:p.Leu890Pro, NP_001278797.1:p.Leu692Pro, XP_011543830.1:p.Leu574Pro, XP_047298096.1:p.Leu777Pro

Select item 148142196712.

rs1481421967 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:17731956 (GRCh38)
X:17750076 (GRCh37)
Canonical SPDI:: NC_000023.11:17731955:C:G,NC_000023.11:17731955:C:T
Gene:: NHS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: pathogenic
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.17731956C>G, NC_000023.11:g.17731956C>T, NC_000023.10:g.17750076C>G, NC_000023.10:g.17750076C>T, NG_011553.2:g.361537C>G, NG_011553.2:g.361537C>T, NM_198270.4:c.4385C>G, NM_198270.4:c.4385C>T, NM_198270.3:c.4385C>G, NM_198270.3:c.4385C>T, NM_198270.2:c.4385C>G, NM_198270.2:c.4385C>T, NM_001136024.4:c.3917C>G, NM_001136024.4:c.3917C>T, NM_001136024.3:c.3917C>G, NM_001136024.3:c.3917C>T, NM_001136024.2:c.3917C>G, NM_001136024.2:c.3917C>T, NM_001291867.2:c.4448C>G, NM_001291867.2:c.4448C>T, NM_001291867.1:c.4448C>G, NM_001291867.1:c.4448C>T, NM_001291868.2:c.3854C>G, NM_001291868.2:c.3854C>T, NM_001291868.1:c.3854C>G, NM_001291868.1:c.3854C>T, XM_011545528.3:c.3500C>G, XM_011545528.3:c.3500C>T, XM_011545528.2:c.3500C>G, XM_011545528.2:c.3500C>T, XM_011545528.1:c.3500C>G, XM_011545528.1:c.3500C>T, XM_047442140.1:c.4109C>G, XM_047442140.1:c.4109C>T, NP_938011.1:p.Ser1462Cys, NP_938011.1:p.Ser1462Phe, NP_001129496.1:p.Ser1306Cys, NP_001129496.1:p.Ser1306Phe, NP_001278796.1:p.Ser1483Cys, NP_001278796.1:p.Ser1483Phe, NP_001278797.1:p.Ser1285Cys, NP_001278797.1:p.Ser1285Phe, XP_011543830.1:p.Ser1167Cys, XP_011543830.1:p.Ser1167Phe, XP_047298096.1:p.Ser1370Cys, XP_047298096.1:p.Ser1370Phe

Select item 147994711513.

rs1479947115 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:17726100 (GRCh38)
X:17744220 (GRCh37)
Canonical SPDI:: NC_000023.11:17726099:C:T
Gene:: NHS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.17726100C>T, NC_000023.10:g.17744220C>T, NG_011553.2:g.355681C>T, NM_198270.4:c.1931C>T, NM_198270.3:c.1931C>T, NM_198270.2:c.1931C>T, NM_001136024.4:c.1463C>T, NM_001136024.3:c.1463C>T, NM_001136024.2:c.1463C>T, NM_001291867.2:c.1994C>T, NM_001291867.1:c.1994C>T, NM_001291868.2:c.1400C>T, NM_001291868.1:c.1400C>T, XM_011545528.3:c.1046C>T, XM_011545528.2:c.1046C>T, XM_011545528.1:c.1046C>T, XM_047442140.1:c.1655C>T, NP_938011.1:p.Ser644Leu, NP_001129496.1:p.Ser488Leu, NP_001278796.1:p.Ser665Leu, NP_001278797.1:p.Ser467Leu, XP_011543830.1:p.Ser349Leu, XP_047298096.1:p.Ser552Leu

Select item 147822766914.

rs1478227669 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:17725694 (GRCh38)
X:17743814 (GRCh37)
Canonical SPDI:: NC_000023.11:17725693:G:A
Gene:: NHS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.17725694G>A, NC_000023.10:g.17743814G>A, NG_011553.2:g.355275G>A, NM_198270.4:c.1525G>A, NM_198270.3:c.1525G>A, NM_198270.2:c.1525G>A, NM_001136024.4:c.1057G>A, NM_001136024.3:c.1057G>A, NM_001136024.2:c.1057G>A, NM_001291867.2:c.1588G>A, NM_001291867.1:c.1588G>A, NM_001291868.2:c.994G>A, NM_001291868.1:c.994G>A, XM_011545528.3:c.640G>A, XM_011545528.2:c.640G>A, XM_011545528.1:c.640G>A, XM_047442140.1:c.1249G>A, NP_938011.1:p.Glu509Lys, NP_001129496.1:p.Glu353Lys, NP_001278796.1:p.Glu530Lys, NP_001278797.1:p.Glu332Lys, XP_011543830.1:p.Glu214Lys, XP_047298096.1:p.Glu417Lys

Select item 147692833615.

rs1476928336 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:17732421 (GRCh38)
X:17750541 (GRCh37)
Canonical SPDI:: NC_000023.11:17732420:A:G
Gene:: NHS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.17732421A>G, NC_000023.10:g.17750541A>G, NG_011553.2:g.362002A>G, NM_198270.4:c.4850A>G, NM_198270.3:c.4850A>G, NM_198270.2:c.4850A>G, NM_001136024.4:c.4382A>G, NM_001136024.3:c.4382A>G, NM_001136024.2:c.4382A>G, NM_001291867.2:c.4913A>G, NM_001291867.1:c.4913A>G, NM_001291868.2:c.4319A>G, NM_001291868.1:c.4319A>G, XM_011545528.3:c.3965A>G, XM_011545528.2:c.3965A>G, XM_011545528.1:c.3965A>G, XM_047442140.1:c.4574A>G, NP_938011.1:p.Asp1617Gly, NP_001129496.1:p.Asp1461Gly, NP_001278796.1:p.Asp1638Gly, NP_001278797.1:p.Asp1440Gly, XP_011543830.1:p.Asp1322Gly, XP_047298096.1:p.Asp1525Gly

Select item 147687986316.

rs1476879863 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:17727526 (GRCh38)
X:17745646 (GRCh37)
Canonical SPDI:: NC_000023.11:17727525:T:A
Gene:: NHS (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.17727526T>A, NC_000023.10:g.17745646T>A, NG_011553.2:g.357107T>A, NM_198270.4:c.3357T>A, NM_198270.3:c.3357T>A, NM_198270.2:c.3357T>A, NM_001136024.4:c.2889T>A, NM_001136024.3:c.2889T>A, NM_001136024.2:c.2889T>A, NM_001291867.2:c.3420T>A, NM_001291867.1:c.3420T>A, NM_001291868.2:c.2826T>A, NM_001291868.1:c.2826T>A, XM_011545528.3:c.2472T>A, XM_011545528.2:c.2472T>A, XM_011545528.1:c.2472T>A, XM_047442140.1:c.3081T>A

Select item 147558484217.

rs1475584842 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:17732161 (GRCh38)
X:17750281 (GRCh37)
Canonical SPDI:: NC_000023.11:17732160:G:A
Gene:: NHS (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.000016/3 (GnomAD_exomes)
A=0.000038/4 (GnomAD)
HGVS:: NC_000023.11:g.17732161G>A, NC_000023.10:g.17750281G>A, NG_011553.2:g.361742G>A, NM_198270.4:c.4590G>A, NM_198270.3:c.4590G>A, NM_198270.2:c.4590G>A, NM_001136024.4:c.4122G>A, NM_001136024.3:c.4122G>A, NM_001136024.2:c.4122G>A, NM_001291867.2:c.4653G>A, NM_001291867.1:c.4653G>A, NM_001291868.2:c.4059G>A, NM_001291868.1:c.4059G>A, XM_011545528.3:c.3705G>A, XM_011545528.2:c.3705G>A, XM_011545528.1:c.3705G>A, XM_047442140.1:c.4314G>A

Select item 147491955918.

rs1474919559 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:17726467 (GRCh38)
X:17744587 (GRCh37)
Canonical SPDI:: NC_000023.11:17726466:C:T
Gene:: NHS (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.17726467C>T, NC_000023.10:g.17744587C>T, NG_011553.2:g.356048C>T, NM_198270.4:c.2298C>T, NM_198270.3:c.2298C>T, NM_198270.2:c.2298C>T, NM_001136024.4:c.1830C>T, NM_001136024.3:c.1830C>T, NM_001136024.2:c.1830C>T, NM_001291867.2:c.2361C>T, NM_001291867.1:c.2361C>T, NM_001291868.2:c.1767C>T, NM_001291868.1:c.1767C>T, XM_011545528.3:c.1413C>T, XM_011545528.2:c.1413C>T, XM_011545528.1:c.1413C>T, XM_047442140.1:c.2022C>T

Select item 147456417019.

rs1474564170 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:17721626 (GRCh38)
X:17739746 (GRCh37)
Canonical SPDI:: NC_000023.11:17721625:T:C
Gene:: NHS (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000447/2 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.17721626T>C, NC_000023.10:g.17739746T>C, NG_011553.2:g.351207T>C, NM_198270.4:c.1038T>C, NM_198270.3:c.1038T>C, NM_198270.2:c.1038T>C, NM_001136024.4:c.570T>C, NM_001136024.3:c.570T>C, NM_001136024.2:c.570T>C, NM_001291867.2:c.1101T>C, NM_001291867.1:c.1101T>C, NM_001291868.2:c.507T>C, NM_001291868.1:c.507T>C, XM_011545528.3:c.153T>C, XM_011545528.2:c.153T>C, XM_011545528.1:c.153T>C, XM_047442140.1:c.762T>C

Select item 147154622220.

rs1471546222 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:17727181 (GRCh38)
X:17745301 (GRCh37)
Canonical SPDI:: NC_000023.11:17727180:T:C
Gene:: NHS (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.17727181T>C, NC_000023.10:g.17745301T>C, NG_011553.2:g.356762T>C, NM_198270.4:c.3012T>C, NM_198270.3:c.3012T>C, NM_198270.2:c.3012T>C, NM_001136024.4:c.2544T>C, NM_001136024.3:c.2544T>C, NM_001136024.2:c.2544T>C, NM_001291867.2:c.3075T>C, NM_001291867.1:c.3075T>C, NM_001291868.2:c.2481T>C, NM_001291868.1:c.2481T>C, XM_011545528.3:c.2127T>C, XM_011545528.2:c.2127T>C, XM_011545528.1:c.2127T>C, XM_047442140.1:c.2736T>C

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dbSNP

Result Filters

Clinical Significance

Validation Status

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Function Class

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Annotation

Global MAF

Custom range

Additional filters

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Items: 1 to 20 of 939

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