HGVS | Genome Assembly |
---|---|
NC_000012.12:g.102852931G>T , CM000674.2:g.102852931G>T | GRCh38 |
NC_000012.11:g.103246709G>T , CM000674.1:g.103246709G>T | GRCh37 |
NC_000012.10:g.101770839G>T | NCBI36 |
NG_008690.1:g.69672C>A | |
NG_008690.2:g.110480C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000553106.6:c.726C>A MANE Select | ENSP00000448059.1:p.Leu242= | |
ENST00000307000.7:c.711C>A | ENSP00000303500.2:p.Leu237= | |
ENST00000549247.6:n.485C>A | ||
ENST00000553106.5:c.726C>A | ENSP00000448059.1:p.Leu242= | |
NM_000277.1:c.726C>A | NP_000268.1:p.Leu242= | |
XM_011538422.1:c.726C>A | XP_011536724.1:p.Leu242= | |
NM_000277.2:c.726C>A | NP_000268.1:p.Leu242= | |
NM_001354304.1:c.726C>A | NP_001341233.1:p.Leu242= | |
NM_000277.3:c.726C>A MANE Select | NP_000268.1:p.Leu242= | |
NM_001354304.2:c.726C>A | NP_001341233.1:p.Leu242= |