Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.81932725A>G , CM000671.2:g.81932725A>G | GRCh38 |
| NC_000009.11:g.84547640A>G , CM000671.1:g.84547640A>G | GRCh37 |
| NC_000009.10:g.83737460A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001145197.1:c.2564A>G MANE Select | NP_001138669.1:p.Lys855Arg |
| ENST00000419782.5:c.2564A>G MANE Select | ENSP00000488251.1:p.Lys855Arg |
| ENST00000419782.4:c.2564A>G | ENSP00000488251.1:p.Lys855Arg |
| XR_001746768.2:n.767-1331T>C | |
| XR_001746772.2:n.768-1331T>C | |
| XR_001746773.2:n.768-1331T>C | |
| XR_002956907.1:n.766-1331T>C | |
| XR_002956909.1:n.770-1331T>C | |
| XR_002956910.1:n.721-1331T>C | |
| XR_002956911.1:n.626-1331T>C | |
| XR_002956912.1:n.89-1331T>C |