Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81761364T>G , CM000665.2:g.81761364T>G | GRCh38 |
| NC_000003.11:g.81810515T>G , CM000665.1:g.81810515T>G | GRCh37 |
| NC_000003.10:g.81893205T>G | NCBI36 |
| NG_011810.1:g.5437A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.143+11A>C MANE Select | ENSP00000410833.2:n.143+11A>C | |
| ENST00000429644.6:c.143+11A>C | ENSP00000410833.2:n.143+11A>C | |
| NM_000158.3:c.143+11A>C | NP_000149.3:n.143+11A>C | |
| NM_000158.4:c.143+11A>C MANE Select | NP_000149.4:n.143+11A>C |