SNP Links for Protein (Select 344179112) - SNP

Links from Protein

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Select item 14908946691.

rs1490894669 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:7485152 (GRCh38)
12:7637748 (GRCh37)
Canonical SPDI:: NC_000012.12:7485151:G:A,NC_000012.12:7485151:G:T
Gene:: CD163 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.7485152G>A, NC_000012.12:g.7485152G>T, NC_000012.11:g.7637748G>A, NC_000012.11:g.7637748G>T, NG_029826.1:g.23667C>T, NG_029826.1:g.23667C>A, NM_004244.6:c.2723C>T, NM_004244.6:c.2723C>A, NM_004244.5:c.2723C>T, NM_004244.5:c.2723C>A, NM_203416.4:c.2723C>T, NM_203416.4:c.2723C>A, NM_203416.3:c.2723C>T, NM_203416.3:c.2723C>A, NM_001370145.1:c.2723C>T, NM_001370145.1:c.2723C>A, NM_001370146.1:c.2723C>T, NM_001370146.1:c.2723C>A, NR_163255.1:n.2674C>T, NR_163255.1:n.2674C>A, XM_024449278.2:c.2822C>T, XM_024449278.2:c.2822C>A, XM_024449278.1:c.2822C>T, XM_024449278.1:c.2822C>A, XM_047429895.1:c.2723C>T, XM_047429895.1:c.2723C>A, NP_004235.4:p.Ser908Phe, NP_004235.4:p.Ser908Tyr, NP_981961.2:p.Ser908Phe, NP_981961.2:p.Ser908Tyr, NP_001357074.1:p.Ser908Phe, NP_001357074.1:p.Ser908Tyr, NP_001357075.1:p.Ser908Phe, NP_001357075.1:p.Ser908Tyr, XP_024305046.1:p.Ser941Phe, XP_024305046.1:p.Ser941Tyr, XP_047285851.1:p.Ser908Phe, XP_047285851.1:p.Ser908Tyr

Select item 14893684992.

rs1489368499 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:7498893 (GRCh38)
12:7651489 (GRCh37)
Canonical SPDI:: NC_000012.12:7498892:A:G
Gene:: CD163 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.7498893A>G, NC_000012.11:g.7651489A>G, NG_029826.1:g.9926T>C, NM_004244.6:c.753T>C, NM_004244.5:c.753T>C, NM_203416.4:c.753T>C, NM_203416.3:c.753T>C, NM_001370145.1:c.753T>C, NM_001370146.1:c.753T>C, NR_163255.1:n.704T>C, XM_024449278.2:c.753T>C, XM_024449278.1:c.753T>C, XM_047429895.1:c.753T>C

Select item 14890417223.

rs1489041722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:7495262 (GRCh38)
12:7647858 (GRCh37)
Canonical SPDI:: NC_000012.12:7495261:C:G
Gene:: CD163 (Varview), LOC124902870 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_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_000012.12:g.7495262C>G, NC_000012.11:g.7647858C>G, NG_029826.1:g.13557G>C, NM_004244.6:c.1239G>C, NM_004244.5:c.1239G>C, NM_203416.4:c.1239G>C, NM_203416.3:c.1239G>C, NM_001370145.1:c.1239G>C, NM_001370146.1:c.1239G>C, NR_163255.1:n.1190G>C, XM_024449278.2:c.1239G>C, XM_024449278.1:c.1239G>C, XM_047429895.1:c.1239G>C, NP_004235.4:p.Gln413His, NP_981961.2:p.Gln413His, NP_001357074.1:p.Gln413His, NP_001357075.1:p.Gln413His, XP_024305046.1:p.Gln413His, XP_047285851.1:p.Gln413His

Select item 14887211564.

rs1488721156 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:7482708 (GRCh38)
12:7635304 (GRCh37)
Canonical SPDI:: NC_000012.12:7482707:A:G
Gene:: CD163 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.7482708A>G, NC_000012.11:g.7635304A>G, NG_029826.1:g.26111T>C, NM_004244.6:c.3182T>C, NM_004244.5:c.3182T>C, NM_203416.4:c.3182T>C, NM_203416.3:c.3182T>C, NM_001370145.1:c.3182T>C, NM_001370146.1:c.3182T>C, NR_163255.1:n.3133T>C, XM_024449278.2:c.3281T>C, XM_024449278.1:c.3281T>C, XM_047429895.1:c.3182T>C, NP_004235.4:p.Leu1061Pro, NP_981961.2:p.Leu1061Pro, NP_001357074.1:p.Leu1061Pro, NP_001357075.1:p.Leu1061Pro, XP_024305046.1:p.Leu1094Pro, XP_047285851.1:p.Leu1061Pro

Select item 14886911855.

rs1488691185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:7485257 (GRCh38)
12:7637853 (GRCh37)
Canonical SPDI:: NC_000012.12:7485256:C:A,NC_000012.12:7485256:C:G
Gene:: CD163 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.7485257C>A, NC_000012.12:g.7485257C>G, NC_000012.11:g.7637853C>A, NC_000012.11:g.7637853C>G, NG_029826.1:g.23562G>T, NG_029826.1:g.23562G>C, NM_004244.6:c.2618G>T, NM_004244.6:c.2618G>C, NM_004244.5:c.2618G>T, NM_004244.5:c.2618G>C, NM_203416.4:c.2618G>T, NM_203416.4:c.2618G>C, NM_203416.3:c.2618G>T, NM_203416.3:c.2618G>C, NM_001370145.1:c.2618G>T, NM_001370145.1:c.2618G>C, NM_001370146.1:c.2618G>T, NM_001370146.1:c.2618G>C, NR_163255.1:n.2569G>T, NR_163255.1:n.2569G>C, XM_024449278.2:c.2717G>T, XM_024449278.2:c.2717G>C, XM_024449278.1:c.2717G>T, XM_024449278.1:c.2717G>C, XM_047429895.1:c.2618G>T, XM_047429895.1:c.2618G>C, NP_004235.4:p.Gly873Val, NP_004235.4:p.Gly873Ala, NP_981961.2:p.Gly873Val, NP_981961.2:p.Gly873Ala, NP_001357074.1:p.Gly873Val, NP_001357074.1:p.Gly873Ala, NP_001357075.1:p.Gly873Val, NP_001357075.1:p.Gly873Ala, XP_024305046.1:p.Gly906Val, XP_024305046.1:p.Gly906Ala, XP_047285851.1:p.Gly873Val, XP_047285851.1:p.Gly873Ala

Select item 14877467156.

rs1487746715 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:7483401 (GRCh38)
12:7635997 (GRCh37)
Canonical SPDI:: NC_000012.12:7483400:A:G
Gene:: CD163 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.7483401A>G, NC_000012.11:g.7635997A>G, NG_029826.1:g.25418T>C, NM_004244.6:c.3054T>C, NM_004244.5:c.3054T>C, NM_203416.4:c.3054T>C, NM_203416.3:c.3054T>C, NM_001370145.1:c.3054T>C, NM_001370146.1:c.3054T>C, NR_163255.1:n.3005T>C, XM_024449278.2:c.3153T>C, XM_024449278.1:c.3153T>C, XM_047429895.1:c.3054T>C

Select item 14876540377.

rs1487654037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:7496867 (GRCh38)
12:7649463 (GRCh37)
Canonical SPDI:: NC_000012.12:7496866:C:T
Gene:: CD163 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000012.12:g.7496867C>T, NC_000012.11:g.7649463C>T, NG_029826.1:g.11952G>A, NM_004244.6:c.1045G>A, NM_004244.5:c.1045G>A, NM_203416.4:c.1045G>A, NM_203416.3:c.1045G>A, NM_001370145.1:c.1045G>A, NM_001370146.1:c.1045G>A, NR_163255.1:n.996G>A, XM_024449278.2:c.1045G>A, XM_024449278.1:c.1045G>A, XM_047429895.1:c.1045G>A, NP_004235.4:p.Glu349Lys, NP_981961.2:p.Glu349Lys, NP_001357074.1:p.Glu349Lys, NP_001357075.1:p.Glu349Lys, XP_024305046.1:p.Glu349Lys, XP_047285851.1:p.Glu349Lys

Select item 14837437288.

rs1483743728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:7495378 (GRCh38)
12:7647974 (GRCh37)
Canonical SPDI:: NC_000012.12:7495377:G:A
Gene:: CD163 (Varview), LOC124902870 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.7495378G>A, NC_000012.11:g.7647974G>A, NG_029826.1:g.13441C>T, NM_004244.6:c.1123C>T, NM_004244.5:c.1123C>T, NM_203416.4:c.1123C>T, NM_203416.3:c.1123C>T, NM_001370145.1:c.1123C>T, NM_001370146.1:c.1123C>T, NR_163255.1:n.1074C>T, XM_024449278.2:c.1123C>T, XM_024449278.1:c.1123C>T, XM_047429895.1:c.1123C>T, NP_004235.4:p.Leu375Phe, NP_981961.2:p.Leu375Phe, NP_001357074.1:p.Leu375Phe, NP_001357075.1:p.Leu375Phe, XP_024305046.1:p.Leu375Phe, XP_047285851.1:p.Leu375Phe

Select item 14836788009.

rs1483678800 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:7497089 (GRCh38)
12:7649685 (GRCh37)
Canonical SPDI:: NC_000012.12:7497088:A:G
Gene:: CD163 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.7497089A>G, NC_000012.11:g.7649685A>G, NG_029826.1:g.11730T>C, NM_004244.6:c.823T>C, NM_004244.5:c.823T>C, NM_203416.4:c.823T>C, NM_203416.3:c.823T>C, NM_001370145.1:c.823T>C, NM_001370146.1:c.823T>C, NR_163255.1:n.774T>C, XM_024449278.2:c.823T>C, XM_024449278.1:c.823T>C, XM_047429895.1:c.823T>C, NP_004235.4:p.Cys275Arg, NP_981961.2:p.Cys275Arg, NP_001357074.1:p.Cys275Arg, NP_001357075.1:p.Cys275Arg, XP_024305046.1:p.Cys275Arg, XP_047285851.1:p.Cys275Arg

Select item 148276345610.

rs1482763456 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:7497113 (GRCh38)
12:7649709 (GRCh37)
Canonical SPDI:: NC_000012.12:7497112:T:G
Gene:: CD163 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.7497113T>G, NC_000012.11:g.7649709T>G, NG_029826.1:g.11706A>C, NM_004244.6:c.799A>C, NM_004244.5:c.799A>C, NM_203416.4:c.799A>C, NM_203416.3:c.799A>C, NM_001370145.1:c.799A>C, NM_001370146.1:c.799A>C, NR_163255.1:n.750A>C, XM_024449278.2:c.799A>C, XM_024449278.1:c.799A>C, XM_047429895.1:c.799A>C

Select item 148168657411.

rs1481686574 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:7481238 (GRCh38)
12:7633834 (GRCh37)
Canonical SPDI:: NC_000012.12:7481237:T:C
Gene:: CD163 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.7481238T>C, NC_000012.11:g.7633834T>C, NG_029826.1:g.27581A>G, NM_004244.6:c.3266A>G, NM_004244.5:c.3266A>G, NM_203416.4:c.3266A>G, NM_203416.3:c.3266A>G, NM_001370145.1:c.3266A>G, NR_163255.1:n.3217A>G, XM_024449278.2:c.3365A>G, XM_024449278.1:c.3365A>G, XM_047429895.1:c.3266A>G, NP_004235.4:p.Asn1089Ser, NP_981961.2:p.Asn1089Ser, NP_001357074.1:p.Asn1089Ser, XP_024305046.1:p.Asn1122Ser, XP_047285851.1:p.Asn1089Ser

Select item 148034485212.

rs1480344852 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:7495391 (GRCh38)
12:7647987 (GRCh37)
Canonical SPDI:: NC_000012.12:7495390:A:T
Gene:: CD163 (Varview), LOC124902870 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.7495391A>T, NC_000012.11:g.7647987A>T, NG_029826.1:g.13428T>A, NM_004244.6:c.1110T>A, NM_004244.5:c.1110T>A, NM_203416.4:c.1110T>A, NM_203416.3:c.1110T>A, NM_001370145.1:c.1110T>A, NM_001370146.1:c.1110T>A, NR_163255.1:n.1061T>A, XM_024449278.2:c.1110T>A, XM_024449278.1:c.1110T>A, XM_047429895.1:c.1110T>A, NP_004235.4:p.Asp370Glu, NP_981961.2:p.Asp370Glu, NP_001357074.1:p.Asp370Glu, NP_001357075.1:p.Asp370Glu, XP_024305046.1:p.Asp370Glu, XP_047285851.1:p.Asp370Glu

Select item 147948983413.

rs1479489834 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:7488043 (GRCh38)
12:7640639 (GRCh37)
Canonical SPDI:: NC_000012.12:7488042:C:T
Gene:: CD163 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000012.12:g.7488043C>T, NC_000012.11:g.7640639C>T, NG_029826.1:g.20776G>A, NM_004244.6:c.1465G>A, NM_004244.5:c.1465G>A, NM_203416.4:c.1465G>A, NM_203416.3:c.1465G>A, NM_001370145.1:c.1465G>A, NM_001370146.1:c.1465G>A, NR_163255.1:n.1416G>A, XM_024449278.2:c.1465G>A, XM_024449278.1:c.1465G>A, XM_047429895.1:c.1465G>A, NP_004235.4:p.Gly489Arg, NP_981961.2:p.Gly489Arg, NP_001357074.1:p.Gly489Arg, NP_001357075.1:p.Gly489Arg, XP_024305046.1:p.Gly489Arg, XP_047285851.1:p.Gly489Arg

Select item 147934378714.

rs1479343787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:7487578 (GRCh38)
12:7640174 (GRCh37)
Canonical SPDI:: NC_000012.12:7487577:G:A
Gene:: CD163 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.7487578G>A, NC_000012.11:g.7640174G>A, NG_029826.1:g.21241C>T, NM_004244.6:c.1831C>T, NM_004244.5:c.1831C>T, NM_203416.4:c.1831C>T, NM_203416.3:c.1831C>T, NM_001370145.1:c.1831C>T, NM_001370146.1:c.1831C>T, NR_163255.1:n.1782C>T, XM_024449278.2:c.1930C>T, XM_024449278.1:c.1930C>T, XM_047429895.1:c.1831C>T, NP_004235.4:p.His611Tyr, NP_981961.2:p.His611Tyr, NP_001357074.1:p.His611Tyr, NP_001357075.1:p.His611Tyr, XP_024305046.1:p.His644Tyr, XP_047285851.1:p.His611Tyr

Select item 147821374615.

rs1478213746 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:7495248 (GRCh38)
12:7647844 (GRCh37)
Canonical SPDI:: NC_000012.12:7495247:G:C
Gene:: CD163 (Varview), LOC124902870 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.7495248G>C, NC_000012.11:g.7647844G>C, NG_029826.1:g.13571C>G, NM_004244.6:c.1253C>G, NM_004244.5:c.1253C>G, NM_203416.4:c.1253C>G, NM_203416.3:c.1253C>G, NM_001370145.1:c.1253C>G, NM_001370146.1:c.1253C>G, NR_163255.1:n.1204C>G, XM_024449278.2:c.1253C>G, XM_024449278.1:c.1253C>G, XM_047429895.1:c.1253C>G, XR_007063197.1:n.439G>C, NP_004235.4:p.Ser418Cys, NP_981961.2:p.Ser418Cys, NP_001357074.1:p.Ser418Cys, NP_001357075.1:p.Ser418Cys, XP_024305046.1:p.Ser418Cys, XP_047285851.1:p.Ser418Cys

Select item 147783993616.

rs1477839936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:7486680 (GRCh38)
12:7639276 (GRCh37)
Canonical SPDI:: NC_000012.12:7486679:C:G
Gene:: CD163 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.7486680C>G, NC_000012.11:g.7639276C>G, NG_029826.1:g.22139G>C, NM_004244.6:c.2277G>C, NM_004244.5:c.2277G>C, NM_203416.4:c.2277G>C, NM_203416.3:c.2277G>C, NM_001370145.1:c.2277G>C, NM_001370146.1:c.2277G>C, NR_163255.1:n.2228G>C, XM_024449278.2:c.2376G>C, XM_024449278.1:c.2376G>C, XM_047429895.1:c.2277G>C, NP_004235.4:p.Gln759His, NP_981961.2:p.Gln759His, NP_001357074.1:p.Gln759His, NP_001357075.1:p.Gln759His, XP_024305046.1:p.Gln792His, XP_047285851.1:p.Gln759His

Select item 147713516017.

rs1477135160 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:7486590 (GRCh38)
12:7639186 (GRCh37)
Canonical SPDI:: NC_000012.12:7486589:A:G
Gene:: CD163 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.7486590A>G, NC_000012.11:g.7639186A>G, NG_029826.1:g.22229T>C, NM_004244.6:c.2367T>C, NM_004244.5:c.2367T>C, NM_203416.4:c.2367T>C, NM_203416.3:c.2367T>C, NM_001370145.1:c.2367T>C, NM_001370146.1:c.2367T>C, NR_163255.1:n.2318T>C, XM_024449278.2:c.2466T>C, XM_024449278.1:c.2466T>C, XM_047429895.1:c.2367T>C

Select item 147316594318.

rs1473165943 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:7495288 (GRCh38)
12:7647884 (GRCh37)
Canonical SPDI:: NC_000012.12:7495287:T:C
Gene:: CD163 (Varview), LOC124902870 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.7495288T>C, NC_000012.11:g.7647884T>C, NG_029826.1:g.13531A>G, NM_004244.6:c.1213A>G, NM_004244.5:c.1213A>G, NM_203416.4:c.1213A>G, NM_203416.3:c.1213A>G, NM_001370145.1:c.1213A>G, NM_001370146.1:c.1213A>G, NR_163255.1:n.1164A>G, XM_024449278.2:c.1213A>G, XM_024449278.1:c.1213A>G, XM_047429895.1:c.1213A>G, NP_004235.4:p.Lys405Glu, NP_981961.2:p.Lys405Glu, NP_001357074.1:p.Lys405Glu, NP_001357075.1:p.Lys405Glu, XP_024305046.1:p.Lys405Glu, XP_047285851.1:p.Lys405Glu

Select item 147243033919.

rs1472430339 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:7482719 (GRCh38)
12:7635315 (GRCh37)
Canonical SPDI:: NC_000012.12:7482718:A:G
Gene:: CD163 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
HGVS:: NC_000012.12:g.7482719A>G, NC_000012.11:g.7635315A>G, NG_029826.1:g.26100T>C, NM_004244.6:c.3171T>C, NM_004244.5:c.3171T>C, NM_203416.4:c.3171T>C, NM_203416.3:c.3171T>C, NM_001370145.1:c.3171T>C, NM_001370146.1:c.3171T>C, NR_163255.1:n.3122T>C, XM_024449278.2:c.3270T>C, XM_024449278.1:c.3270T>C, XM_047429895.1:c.3171T>C

Select item 147239764520.

rs1472397645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:7485283 (GRCh38)
12:7637879 (GRCh37)
Canonical SPDI:: NC_000012.12:7485282:G:A
Gene:: CD163 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.7485283G>A, NC_000012.11:g.7637879G>A, NG_029826.1:g.23536C>T, NM_004244.6:c.2592C>T, NM_004244.5:c.2592C>T, NM_203416.4:c.2592C>T, NM_203416.3:c.2592C>T, NM_001370145.1:c.2592C>T, NM_001370146.1:c.2592C>T, NR_163255.1:n.2543C>T, XM_024449278.2:c.2691C>T, XM_024449278.1:c.2691C>T, XM_047429895.1:c.2592C>T

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