HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44375048G>T , CM000679.2:g.44375048G>T | GRCh38 |
NC_000017.10:g.42452416G>T , CM000679.1:g.42452416G>T | GRCh37 |
NC_000017.9:g.39807942G>T | NCBI36 |
NG_008331.1:g.19458C>A , LRG_479:g.19458C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262407.6:c.2791C>A MANE Select | ENSP00000262407.5:p.Arg931= | |
ENST00000648408.1:c.2222C>A | ||
ENST00000262407.5:c.2791C>A | ENSP00000262407.5:p.Arg931= | |
ENST00000587295.5:c.253+785C>A | ||
ENST00000592462.5:n.2065C>A | ||
NM_000419.3:c.2791C>A , LRG_479t1:c.2791C>A | NP_000410.2:p.Arg931= | |
XM_011524749.1:c.2791C>A | XP_011523051.1:p.Arg931= | |
XM_011524750.1:c.2791C>A | XP_011523052.1:p.Arg931= | |
NM_000419.4:c.2791C>A | NP_000410.2:p.Arg931= | |
NM_000419.5:c.2791C>A MANE Select | NP_000410.2:p.Arg931= |