Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.94407693A>G , CM000675.2:g.94407693A>G | GRCh38 |
| NC_000013.10:g.95059947A>G , CM000675.1:g.95059947A>G | GRCh37 |
| NC_000013.9:g.93857948A>G | NCBI36 |
| NG_011880.1:g.1185870A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005708.5:c.*4476A>G MANE Select | NP_005699.1:n.*4476A>G |
| ENST00000377047.9:c.*4476A>G MANE Select | ENSP00000366246.3:n.*4476A>G |
| NM_005708.3:c.*4476A>G | NP_005699.1:n.*4476A>G |
| NM_005708.4:c.*4476A>G | NP_005699.1:n.*4476A>G |