Linked Data
dbSNP Id:
rs768303091
ExAC:
9:140093887 G / A
gnomAD v2:
9-140093887-G-A
gnomAD v3:
9-137199435-G-A
gnomAD v4:
9-137199435-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137199435G>A , CM000671.2:g.137199435G>A | GRCh38 |
| NC_000009.11:g.140093887G>A , CM000671.1:g.140093887G>A | GRCh37 |
| NC_000009.10:g.139213708G>A | NCBI36 |
| NG_027801.1:g.6277C>T | |
| NG_027801.2:g.9759C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409012.6:c.1277C>T MANE Select | ENSP00000387100.4:p.Ala426Val | |
| ENST00000333046.8:c.671C>T | ENSP00000327617.4:p.Ala224Val | |
| ENST00000409012.4:c.1277C>T | ENSP00000387100.4:p.Ala426Val | |
| ENST00000541945.1:n.90+4669C>T | ||
| NM_001128228.2:c.1277C>T | NP_001121700.2:p.Ala426Val | |
| NM_001128228.3:c.1277C>T MANE Select | NP_001121700.2:p.Ala426Val |