HGVS | Genome Assembly |
---|---|
NC_000009.12:g.128945622T>C , CM000671.2:g.128945622T>C | GRCh38 |
NC_000009.11:g.131707901T>C , CM000671.1:g.131707901T>C | GRCh37 |
NC_000009.10:g.130747722T>C | NCBI36 |
NG_017009.1:g.7112A>G , LRG_744:g.7112A>G | |
NG_033111.1:g.2930T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372586.4:c.*65A>G MANE Select | ENSP00000361667.3:n.*65A>G | |
ENST00000372586.3:c.*65A>G | ENSP00000361667.3:n.*65A>G | |
ENST00000482796.1:c.39-3567T>C | ENSP00000417556.2:n.39-3567T>C | |
NM_014908.3:c.*65A>G , LRG_744t1:c.*65A>G | NP_055723.1:n.*65A>G | |
NM_014908.4:c.*65A>G MANE Select | NP_055723.1:n.*65A>G |