Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.175441524G>T , CM000667.2:g.175441524G>T | GRCh38 |
| NC_000005.9:g.174868527G>T , CM000667.1:g.174868527G>T | GRCh37 |
| NC_000005.8:g.174801133G>T | NCBI36 |
| NG_011802.1:g.7637C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393752.3:c.*235C>A MANE Select | ENSP00000377353.1:n.*235C>A | |
| ENST00000393752.2:c.*235C>A | ENSP00000377353.1:n.*235C>A | |
| NM_000794.3:c.*235C>A | NP_000785.1:n.*235C>A | |
| NM_000794.4:c.*235C>A | NP_000785.1:n.*235C>A | |
| NM_000794.5:c.*235C>A MANE Select | NP_000785.1:n.*235C>A |