HGVS | Genome Assembly |
---|---|
NC_000001.11:g.58782321C= , CM000663.2:g.58782321C= | GRCh38 |
NC_000001.10:g.59247993C= , CM000663.1:g.59247993C= | GRCh37 |
NC_000001.9:g.59020581C= | NCBI36 |
NG_047027.1:g.6793G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000710273.1:c.816G= | ENSP00000518166.1:p.Gln272= | |
ENST00000371222.4:c.750G= MANE Select | ENSP00000360266.2:p.Gln250= | |
ENST00000678696.1:c.750G= | ENSP00000503132.1:p.Gln250= | |
ENST00000371222.3:c.750G= | ENSP00000360266.2:p.Gln250= | |
NM_002228.3:c.750G= | NP_002219.1:p.Gln250= | |
NM_002228.4:c.750G= MANE Select | NP_002219.1:p.Gln250= |