HGVS | Genome Assembly |
---|---|
NC_000009.12:g.99221649G>T , CM000671.2:g.99221649G>T | GRCh38 |
NC_000009.11:g.101983931G>T , CM000671.1:g.101983931G>T | GRCh37 |
NC_000009.10:g.101023752G>T | NCBI36 |
NG_008928.1:g.5316C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000476832.2:c.246C>A MANE Select | ENSP00000417764.1:p.Gly82= | |
ENST00000238477.5:c.246C>A | ENSP00000432675.2:p.Gly82= | |
ENST00000476832.1:c.246C>A | ENSP00000417764.1:p.Gly82= | |
NM_033087.3:c.246C>A | NP_149078.1:p.Gly82= | |
NR_024532.1:n.316C>A | ||
NM_033087.4:c.246C>A MANE Select | NP_149078.1:p.Gly82= | |
NR_024532.2:n.294C>A |