HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129818909C>T , CM000671.2:g.129818909C>T | GRCh38 |
NC_000009.11:g.132581188C>T , CM000671.1:g.132581188C>T | GRCh37 |
NC_000009.10:g.131621009C>T | NCBI36 |
NG_008049.1:g.10254G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351698.5:c.456G>A MANE Select | ENSP00000345719.4:p.Gln152= | |
ENST00000651202.1:c.552G>A | ENSP00000498222.1:p.Gln184= | |
ENST00000351698.4:c.456G>A | ENSP00000345719.4:p.Gln152= | |
ENST00000473604.2:n.566G>A | ||
NM_000113.2:c.456G>A | NP_000104.1:p.Gln152= | |
XR_929731.1:n.616G>A | ||
XR_929731.3:n.484G>A | ||
NM_000113.3:c.456G>A MANE Select | NP_000104.1:p.Gln152= |