Linked Data
dbSNP Id:
rs772905363
ExAC:
17:68171411 G / A
gnomAD v2:
17-68171411-G-A
gnomAD v3:
17-70175270-G-A
gnomAD v4:
17-70175270-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70175270G>A , CM000679.2:g.70175270G>A | GRCh38 |
| NC_000017.10:g.68171411G>A , CM000679.1:g.68171411G>A | GRCh37 |
| NC_000017.9:g.65683006G>A | NCBI36 |
| NG_008798.1:g.10736G>A , LRG_328:g.10736G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243457.4:c.231G>A MANE Select | ENSP00000243457.2:p.Val77= | |
| ENST00000243457.3:c.231G>A | ENSP00000243457.2:p.Val77= | |
| ENST00000535240.1:c.231G>A | ENSP00000441848.1:p.Val77= | |
| NM_000891.2:c.231G>A , LRG_328t1:c.231G>A | NP_000882.1:p.Val77= | |
| XM_011524779.1:c.231G>A | XP_011523081.1:p.Val77= | |
| NM_000891.3:c.231G>A MANE Select | NP_000882.1:p.Val77= |