Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811481A>C , CM000677.2:g.71811481A>C | GRCh38 |
| NC_000015.9:g.72103821A>C , CM000677.1:g.72103821A>C | GRCh37 |
| NC_000015.8:g.69890875A>C | NCBI36 |
| NG_009113.2:g.5927A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014249.4:c.119-2A>C MANE Select | NP_055064.1:n.119-2A>C |
| ENST00000617575.5:c.119-2A>C MANE Select | ENSP00000482504.1:n.119-2A>C |
| NM_014249.3:c.119-2A>C | NP_055064.1:n.119-2A>C |
| NM_016346.3:c.119-2A>C | NP_057430.1:n.119-2A>C |
| NM_016346.4:c.119-2A>C | NP_057430.1:n.119-2A>C |
| ENST00000617575.4:c.119-2A>C | ENSP00000482504.1:n.119-2A>C |
| ENST00000621098.1:c.119-2A>C | ENSP00000479962.1:n.119-2A>C |
| ENST00000621736.4:c.-146-2A>C | ENSP00000479254.1:n.-146-2A>C |
| XM_011521146.1:c.-146-2A>C | XP_011519448.1:n.-146-2A>C |