HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129818883G>T , CM000671.2:g.129818883G>T | GRCh38 |
NC_000009.11:g.132581162G>T , CM000671.1:g.132581162G>T | GRCh37 |
NC_000009.10:g.131620983G>T | NCBI36 |
NG_008049.1:g.10280C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351698.5:c.482C>A MANE Select | ENSP00000345719.4:p.Ala161Asp | |
ENST00000651202.1:c.578C>A | ENSP00000498222.1:p.Ala193Asp | |
ENST00000351698.4:c.482C>A | ENSP00000345719.4:p.Ala161Asp | |
ENST00000473604.2:n.592C>A | ||
NM_000113.2:c.482C>A | NP_000104.1:p.Ala161Asp | |
XR_929731.1:n.642C>A | ||
XR_929731.3:n.510C>A | ||
NM_000113.3:c.482C>A MANE Select | NP_000104.1:p.Ala161Asp |