Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98391954C>T , CM000669.2:g.98391954C>T | GRCh38 |
| NC_000007.13:g.98021266C>T , CM000669.1:g.98021266C>T | GRCh37 |
| NC_000007.12:g.97859202C>T | NCBI36 |
| NG_013090.1:g.14162G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005260.9:c.51+8848G>A MANE Select | ENSP00000005260.8:n.51+8848G>A | |
| ENST00000005260.8:c.51+8848G>A | ENSP00000005260.8:n.51+8848G>A | |
| ENST00000462558.5:n.267+8848G>A | ||
| ENST00000479789.1:n.357+8027G>A | ||
| NM_018842.4:c.51+8848G>A | NP_061330.2:n.51+8848G>A | |
| NM_018842.5:c.51+8848G>A MANE Select | NP_061330.2:n.51+8848G>A |