Linked Data
dbSNP Id:
rs755094245
ExAC:
1:182555302 C / G
gnomAD v2:
1-182555302-C-G
gnomAD v4:
1-182586167-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.182586167C>G , CM000663.2:g.182586167C>G | GRCh38 |
| NC_000001.10:g.182555302C>G , CM000663.1:g.182555302C>G | GRCh37 |
| NC_000001.9:g.180821925C>G | NCBI36 |
| NG_009024.2:g.5807G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367559.7:c.640G>C MANE Select | ENSP00000356530.3:p.Asp214His | |
| ENST00000539397.1:c.640G>C | ENSP00000440844.1:p.Asp214His | |
| NM_021133.3:c.640G>C | NP_066956.1:p.Asp214His | |
| XM_005245411.2:c.640G>C | XP_005245468.1:p.Asp214His | |
| XR_001737359.1:n.923G>C | ||
| XR_001737360.1:n.923G>C | ||
| NM_021133.4:c.640G>C MANE Select | NP_066956.1:p.Asp214His |