Linked Data
ClinVar Variation Id:
806314
ClinVar RCV Id:
RCV000994228
RCV002497293
RCV003455019
RCV003455017
RCV003455018
RCV003458580
RCV002550662
dbSNP Id:
rs76460090
ExAC:
1:201034980 C / T
gnomAD v2:
1-201034980-C-T
gnomAD v3:
1-201065852-C-T
gnomAD v4:
1-201065852-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201065852C>T , CM000663.2:g.201065852C>T | GRCh38 |
| NC_000001.10:g.201034980C>T , CM000663.1:g.201034980C>T | GRCh37 |
| NC_000001.9:g.199301603C>T | NCBI36 |
| NG_009816.1:g.51715G>A | |
| NG_009816.2:g.51715G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.2839G>A MANE Select | ENSP00000355192.3:p.Val947Ile | |
| ENST00000679417.1:c.*2002G>A | ENSP00000506706.1:n.*2002G>A | |
| ENST00000680059.1:c.*357G>A | ENSP00000504944.1:n.*357G>A | |
| ENST00000681078.1:c.2839G>A | ENSP00000506645.1:p.Val947Ile | |
| ENST00000681190.1:c.2839G>A | ENSP00000506428.1:p.Val947Ile | |
| ENST00000681874.1:c.2779G>A | ENSP00000505162.1:p.Val927Ile | |
| ENST00000362061.3:c.2839G>A | ENSP00000355192.3:p.Val947Ile | |
| ENST00000367338.7:c.2839G>A | ENSP00000356307.3:p.Val947Ile | |
| NM_000069.2:c.2839G>A | NP_000060.2:p.Val947Ile | |
| XM_005245478.2:c.2839G>A | XP_005245535.1:p.Val947Ile | |
| XM_005245478.3:c.2839G>A | XP_005245535.1:p.Val947Ile | |
| NM_000069.3:c.2839G>A MANE Select | NP_000060.2:p.Val947Ile |