Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49124903G>T , CM000665.2:g.49124903G>T | GRCh38 |
| NC_000003.11:g.49162336G>T , CM000665.1:g.49162336G>T | GRCh37 |
| NC_000003.10:g.49137340G>T | NCBI36 |
| NG_008094.1:g.13264C>A | |
| NG_054716.1:g.1036C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.2907C>A MANE Select | ENSP00000307156.4:p.Ala969= | |
| ENST00000305544.8:c.2907C>A | ENSP00000307156.4:p.Ala969= | |
| ENST00000418109.5:c.2907C>A | ENSP00000388325.1:p.Ala969= | |
| ENST00000462930.5:n.314C>A | ||
| ENST00000464891.5:n.640C>A | ||
| ENST00000483057.1:n.507C>A | ||
| ENST00000542580.1:n.222C>A | ||
| NM_002292.3:c.2907C>A | NP_002283.3:p.Ala969= | |
| XM_005265127.3:c.2907C>A | XP_005265184.1:p.Ala969= | |
| XM_005265127.4:c.2907C>A | XP_005265184.1:p.Ala969= | |
| NM_002292.4:c.2907C>A MANE Select | NP_002283.3:p.Ala969= |