HGVS | Genome Assembly |
---|---|
NC_000001.11:g.115732965G>A , CM000663.2:g.115732965G>A | GRCh38 |
NC_000001.10:g.116275586G>A , CM000663.1:g.116275586G>A | GRCh37 |
NC_000001.9:g.116077109G>A | NCBI36 |
NG_008802.1:g.40841C>T , LRG_404:g.40841C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000488931.2:c.266C>T | ENSP00000518226.1:p.Ala89Val | |
ENST00000261448.6:c.542C>T MANE Select | ENSP00000261448.5:p.Ala181Val | |
ENST00000261448.5:c.542C>T | ENSP00000261448.5:p.Ala181Val | |
NM_001232.3:c.542C>T , LRG_404t1:c.542C>T | NP_001223.2:p.Ala181Val | |
NM_001232.4:c.542C>T MANE Select | NP_001223.2:p.Ala181Val |