Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151005693C>A , CM000669.2:g.151005693C>A | GRCh38 |
| NC_000007.13:g.150702781C>A , CM000669.1:g.150702781C>A | GRCh37 |
| NC_000007.12:g.150333714C>A | NCBI36 |
| NG_011992.1:g.19635C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000603.5:c.1753-734C>A MANE Select | NP_000594.2:n.1753-734C>A |
| ENST00000297494.8:c.1753-734C>A MANE Select | ENSP00000297494.3:n.1753-734C>A |
| NM_000603.4:c.1753-734C>A | NP_000594.2:n.1753-734C>A |
| ENST00000297494.7:c.1753-734C>A | ENSP00000297494.3:n.1753-734C>A |
| ENST00000461406.5:c.1135-734C>A | ENSP00000417143.1:n.1135-734C>A |
| XM_006716002.2:c.1753-734C>A | XP_006716065.1:n.1753-734C>A |