HGVS | Genome Assembly |
---|---|
NC_000002.12:g.21002320G>T , CM000664.2:g.21002320G>T | GRCh38 |
NC_000002.11:g.21225192G>T , CM000664.1:g.21225192G>T | GRCh37 |
NC_000002.10:g.21078697G>T | NCBI36 |
NG_011793.1:g.46754C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000233242.5:c.13102C>A MANE Select | ENSP00000233242.1:p.Gln4368Lys | |
ENST00000616098.4:c.13100C>A | ENSP00000477990.1:n.13100C>A | |
NM_000384.2:c.13102C>A | NP_000375.2:p.Gln4368Lys | |
XM_011532809.1:c.5870-3047C>A | XP_011531111.1:n.5870-3047C>A | |
NM_000384.3:c.13102C>A MANE Select | NP_000375.3:p.Gln4368Lys |