Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127854482G>A , CM000671.2:g.127854482G>A | GRCh38 |
| NC_000009.11:g.130616761G>A , CM000671.1:g.130616761G>A | GRCh37 |
| NC_000009.10:g.129656582G>A | NCBI36 |
| NG_009551.1:g.5287C>T , LRG_589:g.5287C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373203.9:c.-127C>T MANE Select | ENSP00000362299.4:n.-127C>T | |
| ENST00000344849.4:c.-127C>T | ENSP00000341917.3:n.-127C>T | |
| ENST00000373203.8:c.-127C>T | ENSP00000362299.4:n.-127C>T | |
| NM_000118.3:c.-127C>T , LRG_589t1:c.-127C>T | NP_000109.1:n.-127C>T | |
| NM_001114753.2:c.-127C>T , LRG_589t2:c.-127C>T | NP_001108225.1:n.-127C>T | |
| NM_001114753.3:c.-127C>T MANE Select | NP_001108225.1:n.-127C>T |