Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95319529C>T , CM000669.2:g.95319529C>T | GRCh38 |
| NC_000007.13:g.94948841C>T , CM000669.1:g.94948841C>T | GRCh37 |
| NC_000007.12:g.94786777C>T | NCBI36 |
| NG_008779.1:g.10044G>A | |
| NG_008779.2:g.10178G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000446.7:c.75-1136G>A MANE Select | NP_000437.3:n.75-1136G>A |
| ENST00000222381.8:c.75-1136G>A MANE Select | ENSP00000222381.3:n.75-1136G>A |
| NM_000446.5:c.75-1136G>A | NP_000437.3:n.75-1136G>A |
| NM_000446.6:c.75-1136G>A | NP_000437.3:n.75-1136G>A |
| ENST00000222381.7:c.75-1136G>A | ENSP00000222381.3:n.75-1136G>A |
| ENST00000433729.1:c.75-1136G>A | ENSP00000407359.1:n.75-1136G>A |