HGVS | Genome Assembly |
---|---|
NC_000023.11:g.119930096G>A , CM000685.2:g.119930096G>A | GRCh38 |
NC_000023.10:g.119064059G>A , CM000685.1:g.119064059G>A | GRCh37 |
NC_000023.9:g.118948087G>A | NCBI36 |
NG_021260.1:g.18677C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371410.5:c.993C>T MANE Select | ENSP00000360464.3:p.Ile331= | |
ENST00000652253.1:c.989C>T | ||
ENST00000371410.4:c.993C>T | ENSP00000360464.3:p.Ile331= | |
ENST00000477789.5:n.1921C>T | ||
NM_024528.3:c.993C>T | NP_078804.2:p.Ile331= | |
XM_017029842.1:c.696C>T | XP_016885331.1:p.Ile232= | |
NM_024528.4:c.993C>T MANE Select | NP_078804.2:p.Ile331= |