Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58930716A>C , CM000679.2:g.58930716A>C | GRCh38 |
| NC_000017.10:g.57008077A>C , CM000679.1:g.57008077A>C | GRCh37 |
| NC_000017.9:g.54362859A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308249.4:c.465-24933A>C MANE Select | ENSP00000312411.2:n.465-24933A>C | |
| ENST00000308249.3:c.465-24933A>C | ENSP00000312411.2:n.465-24933A>C | |
| NM_014906.4:c.465-24933A>C | NP_055721.3:n.465-24933A>C | |
| NR_048561.1:n.594-24933A>C | ||
| XM_011524534.1:c.-47-24933A>C | XP_011522836.1:n.-47-24933A>C | |
| XM_024450657.1:c.-253-24933A>C | XP_024306425.1:n.-253-24933A>C | |
| NM_014906.5:c.465-24933A>C MANE Select | NP_055721.3:n.465-24933A>C |