HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74763515T>G , CM000679.2:g.74763515T>G | GRCh38 |
NC_000017.10:g.72759654T>G , CM000679.1:g.72759654T>G | GRCh37 |
NC_000017.9:g.70271249T>G | NCBI36 |
NG_013022.1:g.19892T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262613.10:c.752T>G MANE Select | ENSP00000262613.5:p.Leu251Arg | |
ENST00000262613.9:c.752T>G | ENSP00000262613.5:p.Leu251Arg | |
ENST00000413388.2:c.284T>G | ENSP00000464982.1:p.Leu95Arg | |
ENST00000578958.1:n.486T>G | ||
ENST00000581356.1:c.88T>G | ||
ENST00000583369.5:c.442-4632T>G | ENSP00000464321.1:n.442-4632T>G | |
NM_004252.4:c.752T>G | NP_004243.1:p.Leu251Arg | |
XR_002958087.1:n.971T>G | ||
NM_004252.5:c.752T>G MANE Select | NP_004243.1:p.Leu251Arg |