SNP Links for Protein (Select 8659559) - SNP

Links from Protein

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Select item 14859766481.

rs1485976648 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:33468803 (GRCh38)
21:34841110 (GRCh37)
Canonical SPDI:: NC_000021.9:33468802:A:G
Gene:: TMEM50B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.33468803A>G, NC_000021.8:g.34841110A>G, NG_007570.2:g.88812A>G, NW_003315970.2:g.63384A>G, NW_003315970.1:g.63385A>G, NM_006134.7:c.83T>C, NM_006134.6:c.83T>C, XM_011529746.3:c.83T>C, XM_011529746.2:c.83T>C, XM_011529746.1:c.83T>C, NR_040016.2:n.261T>C, NR_040016.1:n.296T>C, XM_047440988.1:c.83T>C, XM_047440989.1:c.83T>C, NP_006125.2:p.Val28Ala, XP_011528048.1:p.Val28Ala, XP_047296944.1:p.Val28Ala, XP_047296945.1:p.Val28Ala

Select item 14823401422.

rs1482340142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:33467083 (GRCh38)
21:34839390 (GRCh37)
Canonical SPDI:: NC_000021.9:33467082:C:A
Gene:: TMEM50B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000021.9:g.33467083C>A, NC_000021.8:g.34839390C>A, NG_007570.2:g.87092C>A, NW_003315970.2:g.61656C>A, NW_003315970.1:g.61657C>A, NM_006134.7:c.139G>T, NM_006134.6:c.139G>T, XM_011529746.3:c.139G>T, XM_011529746.2:c.139G>T, XM_011529746.1:c.139G>T, NR_040016.2:n.317G>T, NR_040016.1:n.352G>T, XM_047440989.1:c.139G>T, XM_047440988.1:c.139G>T, NP_006125.2:p.Val47Leu, XP_011528048.1:p.Val47Leu, XP_047296945.1:p.Val47Leu, XP_047296944.1:p.Val47Leu

Select item 14704269393.

rs1470426939 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:33468851 (GRCh38)
21:34841158 (GRCh37)
Canonical SPDI:: NC_000021.9:33468850:T:C
Gene:: TMEM50B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.33468851T>C, NC_000021.8:g.34841158T>C, NG_007570.2:g.88860T>C, NW_003315970.2:g.63432T>C, NW_003315970.1:g.63433T>C, NM_006134.7:c.35A>G, NM_006134.6:c.35A>G, XM_011529746.3:c.35A>G, XM_011529746.2:c.35A>G, XM_011529746.1:c.35A>G, NR_040016.2:n.213A>G, NR_040016.1:n.248A>G, XM_047440988.1:c.35A>G, XM_047440989.1:c.35A>G, NP_006125.2:p.Glu12Gly, XP_011528048.1:p.Glu12Gly, XP_047296944.1:p.Glu12Gly, XP_047296945.1:p.Glu12Gly

Select item 14640094504.

rs1464009450 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:33468823 (GRCh38)
21:34841130 (GRCh37)
Canonical SPDI:: NC_000021.9:33468822:T:C
Gene:: TMEM50B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.33468823T>C, NC_000021.8:g.34841130T>C, NG_007570.2:g.88832T>C, NW_003315970.2:g.63404T>C, NW_003315970.1:g.63405T>C, NM_006134.7:c.63A>G, NM_006134.6:c.63A>G, XM_011529746.3:c.63A>G, XM_011529746.2:c.63A>G, XM_011529746.1:c.63A>G, NR_040016.2:n.241A>G, NR_040016.1:n.276A>G, XM_047440988.1:c.63A>G, XM_047440989.1:c.63A>G

Select item 14628716995.

rs1462871699 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:33465394 (GRCh38)
21:34837701 (GRCh37)
Canonical SPDI:: NC_000021.9:33465393:G:A
Gene:: TMEM50B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000021.9:g.33465394G>A, NC_000021.8:g.34837701G>A, NG_007570.2:g.85403G>A, NW_003315970.2:g.59967G>A, NW_003315970.1:g.59968G>A, NM_006134.7:c.228C>T, NM_006134.6:c.228C>T, XM_011529746.3:c.228C>T, XM_011529746.2:c.228C>T, XM_011529746.1:c.228C>T, NR_040016.2:n.406C>T, NR_040016.1:n.441C>T, XM_047440989.1:c.228C>T, XM_047440988.1:c.228C>T

Select item 14596125456.

rs1459612545 [Homo sapiens]

Variant type:: DEL
Alleles:: GCAC>- [Show Flanks]
Chromosome:: 21:33460427 (GRCh38)
21:34832734 (GRCh37)
Canonical SPDI:: NC_000021.9:33460426:GCAC:
Gene:: TMEM50B (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.33460427_33460430del, NC_000021.8:g.34832734_34832737del, NG_007570.2:g.80436_80439del, NW_003315970.2:g.54999_55002del, NW_003315970.1:g.55000_55003del, NM_006134.7:c.356_359del, NM_006134.6:c.356_359del, XM_011529746.3:c.356_359del, XM_011529746.2:c.356_359del, XM_011529746.1:c.356_359del, NR_040016.2:n.534_537del, NR_040016.1:n.569_572del, XM_047440989.1:c.356_359del, XM_047440988.1:c.356_359del, NP_006125.2:p.Gly119fs, XP_011528048.1:p.Gly119fs, XP_047296945.1:p.Gly119fs, XP_047296944.1:p.Gly119fs

Select item 14503546347.

rs1450354634 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:33467118 (GRCh38)
21:34839425 (GRCh37)
Canonical SPDI:: NC_000021.9:33467117:A:G
Gene:: TMEM50B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.33467118A>G, NC_000021.8:g.34839425A>G, NG_007570.2:g.87127A>G, NW_003315970.2:g.61691A>G, NW_003315970.1:g.61692A>G, NM_006134.7:c.104T>C, NM_006134.6:c.104T>C, XM_011529746.3:c.104T>C, XM_011529746.2:c.104T>C, XM_011529746.1:c.104T>C, NR_040016.2:n.282T>C, NR_040016.1:n.317T>C, XM_047440988.1:c.104T>C, XM_047440989.1:c.104T>C, NP_006125.2:p.Phe35Ser, XP_011528048.1:p.Phe35Ser, XP_047296944.1:p.Phe35Ser, XP_047296945.1:p.Phe35Ser

Select item 14467398638.

rs1446739863 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:33467037 (GRCh38)
21:34839344 (GRCh37)
Canonical SPDI:: NC_000021.9:33467036:C:A
Gene:: TMEM50B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.33467037C>A, NC_000021.8:g.34839344C>A, NG_007570.2:g.87046C>A, NW_003315970.2:g.61610C>A, NW_003315970.1:g.61611C>A, NM_006134.7:c.185G>T, NM_006134.6:c.185G>T, XM_011529746.3:c.185G>T, XM_011529746.2:c.185G>T, XM_011529746.1:c.185G>T, NR_040016.2:n.363G>T, NR_040016.1:n.398G>T, XM_047440988.1:c.185G>T, XM_047440989.1:c.185G>T, NP_006125.2:p.Gly62Val, XP_011528048.1:p.Gly62Val, XP_047296944.1:p.Gly62Val, XP_047296945.1:p.Gly62Val

Select item 14461576669.

rs1446157666 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 21:33460424 (GRCh38)
21:34832731 (GRCh37)
Canonical SPDI:: NC_000021.9:33460423:T:C,NC_000021.9:33460423:T:G
Gene:: TMEM50B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000021.9:g.33460424T>C, NC_000021.9:g.33460424T>G, NC_000021.8:g.34832731T>C, NC_000021.8:g.34832731T>G, NG_007570.2:g.80433T>C, NG_007570.2:g.80433T>G, NW_003315970.2:g.54996T>C, NW_003315970.2:g.54996T>G, NW_003315970.1:g.54997T>C, NW_003315970.1:g.54997T>G, NM_006134.7:c.362A>G, NM_006134.7:c.362A>C, NM_006134.6:c.362A>G, NM_006134.6:c.362A>C, XM_011529746.3:c.362A>G, XM_011529746.3:c.362A>C, XM_011529746.2:c.362A>G, XM_011529746.2:c.362A>C, XM_011529746.1:c.362A>G, XM_011529746.1:c.362A>C, NR_040016.2:n.540A>G, NR_040016.2:n.540A>C, NR_040016.1:n.575A>G, NR_040016.1:n.575A>C, XM_047440989.1:c.362A>G, XM_047440989.1:c.362A>C, XM_047440988.1:c.362A>G, XM_047440988.1:c.362A>C, NP_006125.2:p.Tyr121Cys, NP_006125.2:p.Tyr121Ser, XP_011528048.1:p.Tyr121Cys, XP_011528048.1:p.Tyr121Ser, XP_047296945.1:p.Tyr121Cys, XP_047296945.1:p.Tyr121Ser, XP_047296944.1:p.Tyr121Cys, XP_047296944.1:p.Tyr121Ser

Select item 144089542710.

rs1440895427 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:33467087 (GRCh38)
21:34839394 (GRCh37)
Canonical SPDI:: NC_000021.9:33467086:A:G
Gene:: TMEM50B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.33467087A>G, NC_000021.8:g.34839394A>G, NG_007570.2:g.87096A>G, NW_003315970.2:g.61660A>G, NW_003315970.1:g.61661A>G, NM_006134.7:c.135T>C, NM_006134.6:c.135T>C, XM_011529746.3:c.135T>C, XM_011529746.2:c.135T>C, XM_011529746.1:c.135T>C, NR_040016.2:n.313T>C, NR_040016.1:n.348T>C, XM_047440988.1:c.135T>C, XM_047440989.1:c.135T>C

Select item 143922441711.

rs1439224417 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 21:33460425 (GRCh38)
21:34832732 (GRCh37)
Canonical SPDI:: NC_000021.9:33460422:ATAT:AT
Gene:: TMEM50B (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
HGVS:: NC_000021.9:g.33460423AT[1], NC_000021.8:g.34832730AT[1], NG_007570.2:g.80432AT[1], NW_003315970.2:g.54995AT[1], NW_003315970.1:g.54996AT[1], NM_006134.7:c.362_363del, NM_006134.6:c.362_363del, XM_011529746.3:c.362_363del, XM_011529746.2:c.362_363del, XM_011529746.1:c.362_363del, NR_040016.2:n.538AT[1], NR_040016.1:n.573AT[1], XM_047440989.1:c.362_363del, XM_047440988.1:c.362_363del, NP_006125.2:p.Tyr121fs, XP_011528048.1:p.Tyr121fs, XP_047296945.1:p.Tyr121fs, XP_047296944.1:p.Tyr121fs

Select item 143679653112.

rs1436796531 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:33450827 (GRCh38)
21:34823134 (GRCh37)
Canonical SPDI:: NC_000021.9:33450826:T:C
Gene:: TMEM50B (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.33450827T>C, NC_000021.8:g.34823134T>C, NG_007570.2:g.70836T>C, NW_003315970.2:g.45399T>C, NW_003315970.1:g.45400T>C, NM_006134.7:c.468A>G, NM_006134.6:c.468A>G, XM_011529746.3:c.468A>G, XM_011529746.2:c.468A>G, XM_011529746.1:c.468A>G, NR_040016.2:n.646A>G, NR_040016.1:n.681A>G, XM_047440989.1:c.*29A>G

Select item 143436457313.

rs1434364573 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 21:33455775 (GRCh38)
21:34828083 (GRCh37)
Canonical SPDI:: NC_000021.9:33455775:C:CC
Gene:: TMEM50B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,frameshift_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000021.9:g.33455776dup, NC_000021.8:g.34828083dup, NG_007570.2:g.75785dup, NW_003315970.2:g.50348dup, NW_003315970.1:g.50349dup, NM_006134.7:c.382dup, NM_006134.6:c.382dup, XM_011529746.3:c.382dup, XM_011529746.2:c.382dup, XM_011529746.1:c.382dup, NR_040016.2:n.560dup, NR_040016.1:n.595dup, XM_047440988.1:c.*20dup, NP_006125.2:p.Val128fs, XP_011528048.1:p.Val128fs

Select item 143220630914.

rs1432206309 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:33468810 (GRCh38)
21:34841117 (GRCh37)
Canonical SPDI:: NC_000021.9:33468809:C:A
Gene:: TMEM50B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000043/6 (GnomAD)
A=0.000049/13 (TOPMED)
HGVS:: NC_000021.9:g.33468810C>A, NC_000021.8:g.34841117C>A, NG_007570.2:g.88819C>A, NW_003315970.2:g.63391C>A, NW_003315970.1:g.63392C>A, NM_006134.7:c.76G>T, NM_006134.6:c.76G>T, XM_011529746.3:c.76G>T, XM_011529746.2:c.76G>T, XM_011529746.1:c.76G>T, NR_040016.2:n.254G>T, NR_040016.1:n.289G>T, XM_047440988.1:c.76G>T, XM_047440989.1:c.76G>T, NP_006125.2:p.Ala26Ser, XP_011528048.1:p.Ala26Ser, XP_047296944.1:p.Ala26Ser, XP_047296945.1:p.Ala26Ser

Select item 143134251515.

rs1431342515 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:33468840 (GRCh38)
21:34841147 (GRCh37)
Canonical SPDI:: NC_000021.9:33468839:T:C
Gene:: TMEM50B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000023/6 (TOPMED)
HGVS:: NC_000021.9:g.33468840T>C, NC_000021.8:g.34841147T>C, NG_007570.2:g.88849T>C, NW_003315970.2:g.63421T>C, NW_003315970.1:g.63422T>C, NM_006134.7:c.46A>G, NM_006134.6:c.46A>G, XM_011529746.3:c.46A>G, XM_011529746.2:c.46A>G, XM_011529746.1:c.46A>G, NR_040016.2:n.224A>G, NR_040016.1:n.259A>G, XM_047440988.1:c.46A>G, XM_047440989.1:c.46A>G, NP_006125.2:p.Ile16Val, XP_011528048.1:p.Ile16Val, XP_047296944.1:p.Ile16Val, XP_047296945.1:p.Ile16Val

Select item 141077622816.

rs1410776228 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:33460444 (GRCh38)
21:34832751 (GRCh37)
Canonical SPDI:: NC_000021.9:33460443:C:A
Gene:: TMEM50B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000021.9:g.33460444C>A, NC_000021.8:g.34832751C>A, NG_007570.2:g.80453C>A, NW_003315970.2:g.55016C>A, NW_003315970.1:g.55017C>A, NM_006134.7:c.342G>T, NM_006134.6:c.342G>T, XM_011529746.3:c.342G>T, XM_011529746.2:c.342G>T, XM_011529746.1:c.342G>T, NR_040016.2:n.520G>T, NR_040016.1:n.555G>T, XM_047440988.1:c.342G>T, XM_047440989.1:c.342G>T, NP_006125.2:p.Met114Ile, XP_011528048.1:p.Met114Ile, XP_047296944.1:p.Met114Ile, XP_047296945.1:p.Met114Ile

Select item 140895090717.

rs1408950907 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 21:33467041 (GRCh38)
21:34839348 (GRCh37)
Canonical SPDI:: NC_000021.9:33467040:AT:
Gene:: TMEM50B (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.33467041_33467042del, NC_000021.8:g.34839348_34839349del, NG_007570.2:g.87050_87051del, NW_003315970.2:g.61614_61615del, NW_003315970.1:g.61615_61616del, NM_006134.7:c.180_181del, NM_006134.6:c.180_181del, XM_011529746.3:c.180_181del, XM_011529746.2:c.180_181del, XM_011529746.1:c.180_181del, NR_040016.2:n.358_359del, NR_040016.1:n.393_394del, XM_047440988.1:c.180_181del, XM_047440989.1:c.180_181del, NP_006125.2:p.Cys61fs, XP_011528048.1:p.Cys61fs, XP_047296944.1:p.Cys61fs, XP_047296945.1:p.Cys61fs

Select item 139367934618.

rs1393679346 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:33455742 (GRCh38)
21:34828049 (GRCh37)
Canonical SPDI:: NC_000021.9:33455741:G:T
Gene:: TMEM50B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.33455742G>T, NC_000021.8:g.34828049G>T, NG_007570.2:g.75751G>T, NW_003315970.2:g.50314G>T, NW_003315970.1:g.50315G>T, NM_006134.7:c.416C>A, NM_006134.6:c.416C>A, XM_011529746.3:c.416C>A, XM_011529746.2:c.416C>A, XM_011529746.1:c.416C>A, NR_040016.2:n.594C>A, NR_040016.1:n.629C>A, XM_047440988.1:c.*54C>A, NP_006125.2:p.Ala139Glu, XP_011528048.1:p.Ala139Glu

Select item 138658210519.

rs1386582105 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 21:33455734 (GRCh38)
21:34828041 (GRCh37)
Canonical SPDI:: NC_000021.9:33455733:A:T
Gene:: TMEM50B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.00007/1 (ALFA)
HGVS:: NC_000021.9:g.33455734A>T, NC_000021.8:g.34828041A>T, NG_007570.2:g.75743A>T, NW_003315970.2:g.50306A>T, NW_003315970.1:g.50307A>T, NM_006134.7:c.424T>A, NM_006134.6:c.424T>A, XM_011529746.3:c.424T>A, XM_011529746.2:c.424T>A, XM_011529746.1:c.424T>A, NR_040016.2:n.602T>A, NR_040016.1:n.637T>A, XM_047440988.1:c.*62T>A, NP_006125.2:p.Phe142Ile, XP_011528048.1:p.Phe142Ile

Select item 138393025520.

rs1383930255 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:33460491 (GRCh38)
21:34832798 (GRCh37)
Canonical SPDI:: NC_000021.9:33460490:G:T
Gene:: TMEM50B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.33460491G>T, NC_000021.8:g.34832798G>T, NG_007570.2:g.80500G>T, NW_003315970.2:g.55063G>T, NW_003315970.1:g.55064G>T, NM_006134.7:c.295C>A, NM_006134.6:c.295C>A, XM_011529746.3:c.295C>A, XM_011529746.2:c.295C>A, XM_011529746.1:c.295C>A, NR_040016.2:n.473C>A, NR_040016.1:n.508C>A, XM_047440989.1:c.295C>A, XM_047440988.1:c.295C>A, NP_006125.2:p.Leu99Ile, XP_011528048.1:p.Leu99Ile, XP_047296945.1:p.Leu99Ile, XP_047296944.1:p.Leu99Ile

dbSNP

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