HGVS | Genome Assembly |
---|---|
NC_000002.12:g.21001952A>T , CM000664.2:g.21001952A>T | GRCh38 |
NC_000002.11:g.21224824A>T , CM000664.1:g.21224824A>T | GRCh37 |
NC_000002.10:g.21078329A>T | NCBI36 |
NG_011793.1:g.47122T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000233242.5:c.13470T>A MANE Select | ENSP00000233242.1:p.Asp4490Glu | |
ENST00000616098.4:c.13468T>A | ENSP00000477990.1:n.13468T>A | |
NM_000384.2:c.13470T>A | NP_000375.2:p.Asp4490Glu | |
XM_011532809.1:c.5870-2679T>A | XP_011531111.1:n.5870-2679T>A | |
NM_000384.3:c.13470T>A MANE Select | NP_000375.3:p.Asp4490Glu |