Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.93260737C>A , CM000675.2:g.93260737C>A | GRCh38 |
| NC_000013.10:g.93912990C>A , CM000675.1:g.93912990C>A | GRCh37 |
| NC_000013.9:g.92710991C>A | NCBI36 |
| NG_011880.1:g.38913C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005708.5:c.160+33121C>A MANE Select | NP_005699.1:n.160+33121C>A |
| ENST00000377047.9:c.160+33121C>A MANE Select | ENSP00000366246.3:n.160+33121C>A |
| NM_005708.3:c.160+33121C>A | NP_005699.1:n.160+33121C>A |
| NM_005708.4:c.160+33121C>A | NP_005699.1:n.160+33121C>A |
| ENST00000377047.8:c.160+33121C>A | ENSP00000366246.3:n.160+33121C>A |
| XM_017020299.2:c.-5271C>A | XP_016875788.1:n.-5271C>A |