HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44384567C>T , CM000679.2:g.44384567C>T | GRCh38 |
NC_000017.10:g.42461935C>T , CM000679.1:g.42461935C>T | GRCh37 |
NC_000017.9:g.39817461C>T | NCBI36 |
NG_008331.1:g.9939G>A , LRG_479:g.9939G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262407.6:c.818G>A MANE Select | ENSP00000262407.5:p.Gly273Asp | |
ENST00000648408.1:c.249G>A | ||
ENST00000262407.5:c.818G>A | ENSP00000262407.5:p.Gly273Asp | |
ENST00000589645.5:n.269G>A | ||
ENST00000591990.5:n.180G>A | ||
ENST00000592075.5:n.187G>A | ||
ENST00000592226.5:n.58G>A | ||
ENST00000592253.5:n.326G>A | ||
ENST00000592944.1:n.500G>A | ||
NM_000419.3:c.818G>A , LRG_479t1:c.818G>A | NP_000410.2:p.Gly273Asp | |
XM_011524749.1:c.818G>A | XP_011523051.1:p.Gly273Asp | |
XM_011524750.1:c.818G>A | XP_011523052.1:p.Gly273Asp | |
NM_000419.4:c.818G>A | NP_000410.2:p.Gly273Asp | |
NM_000419.5:c.818G>A MANE Select | NP_000410.2:p.Gly273Asp |