Linked Data
ClinVar Variation Id:
6715
dbSNP Id:
rs121434426
gnomAD v2:
9-35076439-G-A
gnomAD v4:
9-35076442-G-A
PubMed:
PMID:10807541
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35076442G>A , CM000671.2:g.35076442G>A | GRCh38 |
| NC_000009.11:g.35076439G>A , CM000671.1:g.35076439G>A | GRCh37 |
| NC_000009.10:g.35066439G>A | NCBI36 |
| NG_007312.1:g.8575C>T , LRG_499:g.8575C>T | |
| NG_007887.1:g.1301C>T , LRG_657:g.1301C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448890.2:c.1066C>T | ENSP00000409607.2:p.Gln356Ter | |
| ENST00000461149.2:n.2283C>T | ||
| ENST00000696700.1:n.2318C>T | ||
| ENST00000696701.1:n.1170C>T | ||
| ENST00000696702.1:c.*542C>T | ENSP00000512821.1:n.*542C>T | |
| ENST00000696703.1:c.*542C>T | ENSP00000512822.1:n.*542C>T | |
| ENST00000696706.1:n.1129C>T | ||
| ENST00000696707.1:n.1283C>T | ||
| ENST00000696708.1:c.*411C>T | ENSP00000512825.1:n.*411C>T | |
| ENST00000696709.1:n.1460+8C>T | ||
| ENST00000696710.1:c.1066C>T | ENSP00000512826.1:p.Gln356Ter | |
| ENST00000696711.1:n.2515C>T | ||
| ENST00000696712.1:n.1182C>T | ||
| ENST00000696713.1:c.1066C>T | ENSP00000512827.1:p.Gln356Ter | |
| ENST00000696714.1:n.1542C>T | ||
| ENST00000696715.1:c.1066C>T | ENSP00000512828.1:p.Gln356Ter | |
| ENST00000378643.8:c.1066C>T MANE Select | ENSP00000367910.4:p.Gln356Ter | |
| ENST00000378643.7:c.1066C>T | ENSP00000367910.3:p.Gln356Ter | |
| ENST00000425676.5:c.*542C>T | ENSP00000412793.1:n.*542C>T | |
| ENST00000474894.1:n.271C>T | ||
| ENST00000476212.1:n.44+80C>T | ||
| NM_004629.1:c.1066C>T , LRG_499t1:c.1066C>T | NP_004620.1:p.Gln356Ter | |
| NM_004629.2:c.1066C>T MANE Select | NP_004620.1:p.Gln356Ter |