Linked Data
ClinVar Variation Id:
30990
dbSNP Id:
rs75949023
ExAC:
18:44104697 G / A
gnomAD v2:
18-44104697-G-A
gnomAD v3:
18-46524734-G-A
gnomAD v4:
18-46524734-G-A
PubMed:
PMID:21465660
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.46524734G>A , CM000680.2:g.46524734G>A | GRCh38 |
| NC_000018.9:g.44104697G>A , CM000680.1:g.44104697G>A | GRCh37 |
| NC_000018.8:g.42358695G>A | NCBI36 |
| NG_016646.1:g.137300C>T | |
| NG_016646.2:g.137300C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000300591.11:c.1381C>T | ENSP00000300591.6:p.Arg461Ter | |
| ENST00000579038.6:c.1093C>T | ENSP00000463285.1:p.Arg365Ter | |
| ENST00000582408.6:c.1381C>T | ENSP00000461964.1:p.Arg461Ter | |
| ENST00000642948.1:c.4714C>T MANE Select | ENSP00000496347.1:p.Arg1572Ter | |
| ENST00000300591.10:c.1381C>T | ENSP00000300591.6:p.Arg461Ter | |
| ENST00000335730.6:n.4027C>T | ||
| ENST00000441551.6:c.4096C>T | ENSP00000387621.2:p.Arg1366Ter | |
| ENST00000536736.5:c.4714C>T | ENSP00000444586.1:p.Arg1572Ter | |
| ENST00000579038.5:c.1093C>T | ENSP00000463285.1:p.Arg365Ter | |
| ENST00000582408.5:c.1381C>T | ENSP00000461964.1:p.Arg461Ter | |
| NM_001145472.2:c.1381C>T | NP_001138944.1:p.Arg461Ter | |
| NM_001308013.1:c.1093C>T | NP_001294942.1:p.Arg365Ter | |
| NM_144612.6:c.4714C>T | NP_653213.6:p.Arg1572Ter | |
| XM_006722388.2:c.1513C>T | XP_006722451.1:p.Arg505Ter | |
| XM_006722389.2:c.1381C>T | XP_006722452.1:p.Arg461Ter | |
| XM_006722390.2:c.1381C>T | XP_006722453.1:p.Arg461Ter | |
| XM_006722391.2:c.1513C>T | XP_006722454.1:p.Arg505Ter | |
| XM_011525803.1:c.4714C>T | XP_011524105.1:p.Arg1572Ter | |
| XM_011525804.1:c.2875C>T | XP_011524106.1:p.Arg959Ter | |
| XM_011525805.1:c.1378C>T | XP_011524107.1:p.Arg460Ter | |
| XM_011525806.1:c.1093C>T | XP_011524108.1:p.Arg365Ter | |
| XM_011525807.1:c.1093C>T | XP_011524109.1:p.Arg365Ter | |
| XM_011525809.1:c.1093C>T | XP_011524111.1:p.Arg365Ter | |
| XM_006722388.3:c.1513C>T | XP_006722451.1:p.Arg505Ter | |
| XM_006722389.3:c.1381C>T | XP_006722452.1:p.Arg461Ter | |
| XM_006722390.3:c.1381C>T | XP_006722453.1:p.Arg461Ter | |
| XM_006722391.3:c.1513C>T | XP_006722454.1:p.Arg505Ter | |
| XM_011525804.2:c.2875C>T | XP_011524106.1:p.Arg959Ter | |
| XM_017025548.1:c.4096C>T | XP_016881037.1:p.Arg1366Ter | |
| XM_024451084.1:c.3196C>T | XP_024306852.1:p.Arg1066Ter | |
| XM_024451085.1:c.1378C>T | XP_024306853.1:p.Arg460Ter | |
| XM_024451086.1:c.1093C>T | XP_024306854.1:p.Arg365Ter | |
| XM_024451087.1:c.1093C>T | XP_024306855.1:p.Arg365Ter | |
| XM_024451088.1:c.1093C>T | XP_024306856.1:p.Arg365Ter | |
| NM_001145472.3:c.1381C>T | NP_001138944.1:p.Arg461Ter | |
| NM_001308013.2:c.1093C>T | NP_001294942.1:p.Arg365Ter | |
| NM_001384474.1:c.4714C>T MANE Select | NP_001371403.1:p.Arg1572Ter | |
| NM_144612.7:c.4714C>T | NP_653213.6:p.Arg1572Ter |