Linked Data
dbSNP Id:
rs764674563
ExAC:
1:214830740 G / A
gnomAD v2:
1-214830740-G-A
gnomAD v4:
1-214657397-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.214657397G>A , CM000663.2:g.214657397G>A | GRCh38 |
| NC_000001.10:g.214830740G>A , CM000663.1:g.214830740G>A | GRCh37 |
| NC_000001.9:g.212897363G>A | NCBI36 |
| NG_046787.1:g.59219G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706765.1:c.8773G>A | ENSP00000516538.1:p.Val2925Ile | |
| ENST00000706766.1:n.1049G>A | ||
| ENST00000366955.8:c.8950G>A MANE Select | ENSP00000355922.3:p.Val2984Ile | |
| ENST00000366955.7:c.8950G>A | ENSP00000355922.3:p.Val2984Ile | |
| ENST00000469862.1:n.721G>A | ||
| NM_016343.3:c.8950G>A | NP_057427.3:p.Val2984Ile | |
| XM_011509082.1:c.8773G>A | XP_011507384.1:p.Val2925Ile | |
| XM_011509083.1:c.7885G>A | XP_011507385.1:p.Val2629Ile | |
| XM_011509082.3:c.8773G>A | XP_011507384.1:p.Val2925Ile | |
| XM_017000086.2:c.8950G>A | XP_016855575.1:p.Val2984Ile | |
| NM_016343.4:c.8950G>A MANE Select | NP_057427.3:p.Val2984Ile |