HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17022717A>T , CM000663.2:g.17022717A>T | GRCh38 |
NC_000001.10:g.17349212A>T , CM000663.1:g.17349212A>T | GRCh37 |
NC_000001.9:g.17221799A>T | NCBI36 |
NG_012340.1:g.36454T>A , LRG_316:g.36454T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.485T>A | ENSP00000481376.2:p.Met162Lys | |
ENST00000491274.6:c.614T>A | ENSP00000480482.2:p.Met205Lys | |
ENST00000375499.8:c.656T>A MANE Select | ENSP00000364649.3:p.Met219Lys | |
ENST00000375499.7:c.656T>A | ENSP00000364649.3:p.Met219Lys | |
ENST00000475049.5:n.81T>A | ||
ENST00000485092.5:n.320T>A | ||
ENST00000485515.5:n.590T>A | ||
NM_003000.2:c.656T>A , LRG_316t1:c.656T>A | NP_002991.2:p.Met219Lys | |
NM_003000.3:c.656T>A MANE Select | NP_002991.2:p.Met219Lys |