Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.173117627C>T , CM000665.2:g.173117627C>T | GRCh38 |
| NC_000003.11:g.172835417C>T , CM000665.1:g.172835417C>T | GRCh37 |
| NC_000003.10:g.174318111C>T | NCBI36 |
| NG_021422.1:g.28642G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351008.4:c.105G>A MANE Select | ENSP00000341765.3:p.Ala35= | |
| ENST00000351008.3:c.105G>A | ENSP00000341765.3:p.Ala35= | |
| NM_031955.5:c.105G>A | NP_114161.3:p.Ala35= | |
| XM_006713778.2:c.105G>A | XP_006713841.1:p.Ala35= | |
| XM_011513222.1:c.105G>A | XP_011511524.1:p.Ala35= | |
| XR_924722.1:n.133+3275C>T | ||
| XR_924723.1:n.134-692C>T | ||
| XM_006713778.3:c.105G>A | XP_006713841.1:p.Ala35= | |
| XM_017007308.2:c.105G>A | XP_016862797.1:p.Ala35= | |
| XR_001741021.1:n.65+3275C>T | ||
| NM_031955.6:c.105G>A MANE Select | NP_114161.3:p.Ala35= |