HGVS | Genome Assembly |
---|---|
NC_000002.12:g.21015434G= , CM000664.2:g.21015434G= | GRCh38 |
NC_000002.11:g.21238306G= , CM000664.1:g.21238306G= | GRCh37 |
NC_000002.10:g.21091811G= | NCBI36 |
NG_011793.1:g.33640C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673739.2:c.*2750C= | ENSP00000501110.2:n.*2750C= | |
ENST00000673882.2:c.*2539C= | ENSP00000501253.2:n.*2539C= | |
ENST00000673739.1:c.3158C= | ENSP00000501110.1:n.3158C= | |
ENST00000673882.1:c.2947C= | ENSP00000501253.1:n.2947C= | |
ENST00000233242.5:c.3444C= MANE Select | ENSP00000233242.1:p.Leu1148= | |
ENST00000616098.4:c.3444C= | ENSP00000477990.1:p.Leu1148= | |
NM_000384.2:c.3444C= | NP_000375.2:p.Leu1148= | |
XM_011532809.1:c.3444C= | XP_011531111.1:p.Leu1148= | |
NM_000384.3:c.3444C= MANE Select | NP_000375.3:p.Leu1148= |