Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.173049107T>C , CM000665.2:g.173049107T>C | GRCh38 |
| NC_000003.11:g.172766897T>C , CM000665.1:g.172766897T>C | GRCh37 |
| NC_000003.10:g.174249591T>C | NCBI36 |
| NG_021422.1:g.97162A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351008.4:c.613-13A>G MANE Select | ENSP00000341765.3:n.613-13A>G | |
| ENST00000351008.3:c.613-13A>G | ENSP00000341765.3:n.613-13A>G | |
| NM_031955.5:c.613-13A>G | NP_114161.3:n.613-13A>G | |
| XM_006713778.2:c.613-13A>G | XP_006713841.1:n.613-13A>G | |
| XM_011513222.1:c.613-13A>G | XP_011511524.1:n.613-13A>G | |
| XM_006713778.3:c.613-13A>G | XP_006713841.1:n.613-13A>G | |
| XM_017007308.2:c.613-13A>G | XP_016862797.1:n.613-13A>G | |
| NM_031955.6:c.613-13A>G MANE Select | NP_114161.3:n.613-13A>G |