Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133354748T>G , CM000671.2:g.133354748T>G | GRCh38 |
| NC_000009.10:g.135211424T>G | NCBI36 |
| NG_008477.1:g.6759A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003172.4:c.241-7A>C MANE Select | NP_003163.1:n.241-7A>C |
| ENST00000371974.8:c.241-7A>C MANE Select | ENSP00000361042.3:n.241-7A>C |
| NM_001280787.1:c.-87-7A>C | NP_001267716.1:n.-87-7A>C |
| NM_003172.3:c.241-7A>C | NP_003163.1:n.241-7A>C |
| ENST00000371974.7:c.241-7A>C | ENSP00000361042.3:n.241-7A>C |
| ENST00000437995.1:n.187-7A>C | |
| ENST00000615505.4:c.-87-7A>C | ENSP00000482067.1:n.-87-7A>C |
| XM_011518942.1:c.-87-7A>C | XP_011517244.1:n.-87-7A>C |