HGVS | Genome Assembly |
---|---|
NC_000001.11:g.15445603T>G , CM000663.2:g.15445603T>G | GRCh38 |
NC_000001.10:g.15772098T>G , CM000663.1:g.15772098T>G | GRCh37 |
NC_000001.9:g.15644685T>G | NCBI36 |
NG_009253.1:g.12161T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375949.5:c.646T>G MANE Select | ENSP00000365116.4:p.Ser216Ala | |
ENST00000375943.6:c.*100T>G | ENSP00000365110.2:n.*100T>G | |
ENST00000375949.4:c.646T>G | ENSP00000365116.4:p.Ser216Ala | |
ENST00000483406.1:n.410T>G | ||
NM_007272.2:c.646T>G | NP_009203.2:p.Ser216Ala | |
XM_011540550.1:c.500T>G | XP_011538852.1:p.Leu167Arg | |
NM_007272.3:c.646T>G MANE Select | NP_009203.2:p.Ser216Ala |