Linked Data
dbSNP Id:
rs485660
gnomAD v2:
1-110023432-G-A
gnomAD v3:
1-109480810-G-A
gnomAD v4:
1-109480810-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109480810G>A , CM000663.2:g.109480810G>A | GRCh38 |
| NC_000001.10:g.110023432G>A , CM000663.1:g.110023432G>A | GRCh37 |
| NC_000001.9:g.109824955G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369872.4:c.*1262G>A MANE Select | ENSP00000358888.3:n.*1262G>A | |
| ENST00000369872.3:c.*1262G>A | ENSP00000358888.3:n.*1262G>A | |
| NM_001040709.1:c.*1262G>A | NP_001035799.1:n.*1262G>A | |
| XM_011541285.1:c.*1262G>A | XP_011539587.1:n.*1262G>A | |
| NM_001040709.2:c.*1262G>A MANE Select | NP_001035799.1:n.*1262G>A |