HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48419736C>A , CM000681.2:g.48419736C>A | GRCh38 |
NC_000019.9:g.48922993C>A , CM000681.1:g.48922993C>A | GRCh37 |
NC_000019.8:g.53614805C>A | NCBI36 |
NG_052829.1:g.29862C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263269.4:c.2013C>A MANE Select | ENSP00000263269.2:p.Ala671= | |
ENST00000263269.3:c.2013C>A | ENSP00000263269.2:p.Ala671= | |
NM_000836.2:c.2013C>A | NP_000827.2:p.Ala671= | |
XM_011526872.1:c.2013C>A | XP_011525174.1:p.Ala671= | |
NM_000836.4:c.2013C>A MANE Select | NP_000827.2:p.Ala671= |