HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17054015G>A , CM000663.2:g.17054015G>A | GRCh38 |
NC_000001.10:g.17380510G>A , CM000663.1:g.17380510G>A | GRCh37 |
NC_000001.9:g.17253097G>A | NCBI36 |
NG_012340.1:g.5156C>T , LRG_316:g.5156C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375499.8:c.5C>T MANE Select | ENSP00000364649.3:p.Ala2Val | |
ENST00000375499.7:c.5C>T | ENSP00000364649.3:p.Ala2Val | |
ENST00000466613.2:n.17C>T | ||
NM_003000.2:c.5C>T , LRG_316t1:c.5C>T | NP_002991.2:p.Ala2Val | |
NM_003000.3:c.5C>T MANE Select | NP_002991.2:p.Ala2Val |