HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129818911G>A , CM000671.2:g.129818911G>A | GRCh38 |
NC_000009.11:g.132581190G>A , CM000671.1:g.132581190G>A | GRCh37 |
NC_000009.10:g.131621011G>A | NCBI36 |
NG_008049.1:g.10252C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351698.5:c.454C>T MANE Select | ENSP00000345719.4:p.Gln152Ter | |
ENST00000651202.1:c.550C>T | ENSP00000498222.1:p.Gln184Ter | |
ENST00000351698.4:c.454C>T | ENSP00000345719.4:p.Gln152Ter | |
ENST00000473604.2:n.564C>T | ||
NM_000113.2:c.454C>T | NP_000104.1:p.Gln152Ter | |
XR_929731.1:n.614C>T | ||
XR_929731.3:n.482C>T | ||
NM_000113.3:c.454C>T MANE Select | NP_000104.1:p.Gln152Ter |