Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12727853A>G , CM000686.2:g.12727853A>G | GRCh38 |
| NC_000024.9:g.14839786A>G , CM000686.1:g.14839786A>G | GRCh37 |
| NC_000024.8:g.13349180A>G | NCBI36 |
| NG_008311.1:g.31627A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004654.4:c.657+1060A>G MANE Select | NP_004645.2:n.657+1060A>G |
| ENST00000338981.7:c.657+1060A>G MANE Select | ENSP00000342812.3:n.657+1060A>G |
| NM_004654.3:c.657+1060A>G | NP_004645.2:n.657+1060A>G |
| ENST00000426564.6:n.669+1060A>G | |
| ENST00000651177.1:c.657+1060A>G | ENSP00000498372.1:n.657+1060A>G |
| XM_011531469.1:c.657+1060A>G | XP_011529771.1:n.657+1060A>G |
| XM_011531470.1:c.423+1060A>G | XP_011529772.1:n.423+1060A>G |
| XM_017030078.2:c.657+1060A>G | XP_016885567.1:n.657+1060A>G |