HGVS | Genome Assembly |
---|---|
NC_000009.12:g.6592923G>T , CM000671.2:g.6592923G>T | GRCh38 |
NC_000009.11:g.6592923G>T , CM000671.1:g.6592923G>T | GRCh37 |
NC_000009.10:g.6582923G>T | NCBI36 |
NG_016397.1:g.57770C>A , LRG_643:g.57770C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000321612.8:c.1329C>A MANE Select | ENSP00000370737.4:p.Gly443= | |
ENST00000639364.1:n.1029C>A | ||
ENST00000639443.1:n.897C>A | ||
ENST00000639493.1:n.481C>A | ||
ENST00000639954.1:n.1037C>A | ||
ENST00000640592.1:n.1212C>A | ||
ENST00000640703.1:n.172C>A | ||
ENST00000321612.6:c.1329C>A | ENSP00000370737.3:p.Gly443= | |
ENST00000463305.1:n.413C>A | ||
NM_000170.2:c.1329C>A , LRG_643t1:c.1329C>A | NP_000161.2:p.Gly443= | |
NM_000170.3:c.1329C>A MANE Select | NP_000161.2:p.Gly443= |