HGVS | Genome Assembly |
---|---|
NC_000012.12:g.102852919A>T , CM000674.2:g.102852919A>T | GRCh38 |
NC_000012.11:g.103246697A>T , CM000674.1:g.103246697A>T | GRCh37 |
NC_000012.10:g.101770827A>T | NCBI36 |
NG_008690.1:g.69684T>A | |
NG_008690.2:g.110492T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000553106.6:c.738T>A MANE Select | ENSP00000448059.1:p.Ala246= | |
ENST00000307000.7:c.723T>A | ENSP00000303500.2:p.Ala241= | |
ENST00000549247.6:n.497T>A | ||
ENST00000553106.5:c.738T>A | ENSP00000448059.1:p.Ala246= | |
NM_000277.1:c.738T>A | NP_000268.1:p.Ala246= | |
XM_011538422.1:c.738T>A | XP_011536724.1:p.Ala246= | |
NM_000277.2:c.738T>A | NP_000268.1:p.Ala246= | |
NM_001354304.1:c.738T>A | NP_001341233.1:p.Ala246= | |
NM_000277.3:c.738T>A MANE Select | NP_000268.1:p.Ala246= | |
NM_001354304.2:c.738T>A | NP_001341233.1:p.Ala246= |