HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17024029A>C , CM000663.2:g.17024029A>C | GRCh38 |
NC_000001.10:g.17350524A>C , CM000663.1:g.17350524A>C | GRCh37 |
NC_000001.9:g.17223111A>C | NCBI36 |
NG_012340.1:g.35142T>G , LRG_316:g.35142T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.415T>G | ENSP00000481376.2:p.Cys139Gly | |
ENST00000491274.6:c.544T>G | ENSP00000480482.2:p.Cys182Gly | |
ENST00000375499.8:c.586T>G MANE Select | ENSP00000364649.3:p.Cys196Gly | |
ENST00000375499.7:c.586T>G | ENSP00000364649.3:p.Cys196Gly | |
ENST00000485515.5:n.520T>G | ||
ENST00000491274.5:c.544T>G | ENSP00000480482.1:p.Cys182Gly | |
NM_003000.2:c.586T>G , LRG_316t1:c.586T>G | NP_002991.2:p.Cys196Gly | |
NM_003000.3:c.586T>G MANE Select | NP_002991.2:p.Cys196Gly |