HGVS | Genome Assembly |
---|---|
NC_000001.11:g.15445697A>C , CM000663.2:g.15445697A>C | GRCh38 |
NC_000001.10:g.15772192A>C , CM000663.1:g.15772192A>C | GRCh37 |
NC_000001.9:g.15644779A>C | NCBI36 |
NG_009253.1:g.12255A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375949.5:c.740A>C MANE Select | ENSP00000365116.4:p.Lys247Thr | |
ENST00000375943.6:c.*194A>C | ENSP00000365110.2:n.*194A>C | |
ENST00000375949.4:c.740A>C | ENSP00000365116.4:p.Lys247Thr | |
ENST00000483406.1:n.504A>C | ||
NM_007272.2:c.740A>C | NP_009203.2:p.Lys247Thr | |
XM_011540550.1:c.594A>C | XP_011538852.1:p.Gln198His | |
NM_007272.3:c.740A>C MANE Select | NP_009203.2:p.Lys247Thr |