Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.40692741G>A , CM000685.2:g.40692741G>A | GRCh38 |
| NC_000023.10:g.40551993G>A , CM000685.1:g.40551993G>A | GRCh37 |
| NC_000023.9:g.40436937G>A | NCBI36 |
| NG_016325.1:g.47812C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324817.6:c.1812C>T MANE Select | ENSP00000323720.1:p.Thr604= | |
| ENST00000324817.5:c.1812C>T | ENSP00000323720.1:p.Thr604= | |
| NM_004229.3:c.1812C>T | NP_004220.2:p.Thr604= | |
| XM_005272701.1:c.1464C>T | XP_005272758.1:p.Thr488= | |
| XM_011544000.1:c.1464C>T | XP_011542302.1:p.Thr488= | |
| XM_005272701.3:c.1464C>T | XP_005272758.1:p.Thr488= | |
| XM_011544000.3:c.1464C>T | XP_011542302.1:p.Thr488= | |
| XM_017029962.2:c.1464C>T | XP_016885451.1:p.Thr488= | |
| NM_004229.4:c.1812C>T MANE Select | NP_004220.2:p.Thr604= |