Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.175443147C>T , CM000667.2:g.175443147C>T | GRCh38 |
| NC_000005.9:g.174870150C>T , CM000667.1:g.174870150C>T | GRCh37 |
| NC_000005.8:g.174802756C>T | NCBI36 |
| NG_011802.1:g.6014G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000794.5:c.-48G>A MANE Select | NP_000785.1:n.-48G>A |
| ENST00000393752.3:c.-48G>A MANE Select | ENSP00000377353.1:n.-48G>A |
| NM_000794.3:c.-48G>A | NP_000785.1:n.-48G>A |
| NM_000794.4:c.-48G>A | NP_000785.1:n.-48G>A |
| ENST00000393752.2:c.-48G>A | ENSP00000377353.1:n.-48G>A |