HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17024073T>A , CM000663.2:g.17024073T>A | GRCh38 |
NC_000001.10:g.17350568T>A , CM000663.1:g.17350568T>A | GRCh37 |
NC_000001.9:g.17223155T>A | NCBI36 |
NG_012340.1:g.35098A>T , LRG_316:g.35098A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000463045.3:c.371A>T | ENSP00000481376.2:p.Asp124Val | |
ENST00000491274.6:c.500A>T | ENSP00000480482.2:p.Asp167Val | |
ENST00000375499.8:c.542A>T MANE Select | ENSP00000364649.3:p.Asp181Val | |
ENST00000375499.7:c.542A>T | ENSP00000364649.3:p.Asp181Val | |
ENST00000485515.5:n.476A>T | ||
ENST00000491274.5:c.500A>T | ENSP00000480482.1:p.Asp167Val | |
NM_003000.2:c.542A>T , LRG_316t1:c.542A>T | NP_002991.2:p.Asp181Val | |
NM_003000.3:c.542A>T MANE Select | NP_002991.2:p.Asp181Val |