HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122461989G>T , CM000672.2:g.122461989G>T | GRCh38 |
NC_000010.10:g.124221505G>T , CM000672.1:g.124221505G>T | GRCh37 |
NC_000010.9:g.124211495G>T | NCBI36 |
NG_011554.1:g.5465G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368984.8:c.337G>T MANE Select | ENSP00000357980.3:p.Ala113Ser | |
ENST00000648167.1:c.154+3280G>T | ENSP00000498033.1:n.154+3280G>T | |
ENST00000368984.7:c.337G>T | ENSP00000357980.3:p.Ala113Ser | |
NM_002775.4:c.337G>T | NP_002766.1:p.Ala113Ser | |
NM_002775.5:c.337G>T MANE Select | NP_002766.1:p.Ala113Ser |