Linked Data
dbSNP Id:
rs1557654944
gnomAD v2:
1-94883957-C-A
gnomAD v3:
1-94418401-C-A
gnomAD v4:
1-94418401-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94418401C>A , CM000663.2:g.94418401C>A | GRCh38 |
| NC_000001.10:g.94883957C>A , CM000663.1:g.94883957C>A | GRCh37 |
| NC_000001.9:g.94656545C>A | NCBI36 |
| NG_008865.1:g.5025C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370214.9:c.-78C>A MANE Select | ENSP00000359233.4:n.-78C>A | |
| NM_001122674.1:c.-78C>A | NP_001116146.1:n.-78C>A | |
| NM_002858.3:c.-78C>A | NP_002849.1:n.-78C>A | |
| XM_006710802.2:c.-78C>A | XP_006710865.2:n.-78C>A | |
| NM_002858.4:c.-78C>A MANE Select | NP_002849.1:n.-78C>A | |
| NM_001122674.2:c.-78C>A | NP_001116146.1:n.-78C>A |