HGVS | Genome Assembly |
---|---|
NC_000002.12:g.169201638C>A , CM000664.2:g.169201638C>A | GRCh38 |
NC_000002.11:g.170058148C>A , CM000664.1:g.170058148C>A | GRCh37 |
NC_000002.10:g.169766394C>A | NCBI36 |
NG_012634.1:g.165975G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000649046.1:c.8442G>T MANE Select | ENSP00000496870.1:p.Glu2814Asp | |
ENST00000263816.7:c.8442G>T | ENSP00000263816.3:p.Glu2814Asp | |
NM_004525.2:c.8442G>T | NP_004516.2:p.Glu2814Asp | |
XM_011511183.1:c.8442G>T | XP_011509485.1:p.Glu2814Asp | |
XM_011511184.1:c.6153G>T | XP_011509486.1:p.Glu2051Asp | |
XM_011511185.1:c.8442G>T | XP_011509487.1:p.Glu2814Asp | |
NM_004525.3:c.8442G>T MANE Select | NP_004516.2:p.Glu2814Asp | |
XM_011511183.3:c.8442G>T | XP_011509485.1:p.Glu2814Asp | |
XM_011511184.2:c.6153G>T | XP_011509486.1:p.Glu2051Asp |