HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129813973C>A , CM000671.2:g.129813973C>A | GRCh38 |
NC_000009.11:g.132576252C>A , CM000671.1:g.132576252C>A | GRCh37 |
NC_000009.10:g.131616073C>A | NCBI36 |
NG_008049.1:g.15190G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000351698.5:c.998G>T MANE Select | ENSP00000345719.4:p.Ter333Leu | |
ENST00000651202.1:c.*266G>T | ENSP00000498222.1:n.*266G>T | |
ENST00000351698.4:c.998G>T | ENSP00000345719.4:p.Ter333Leu | |
ENST00000474192.1:n.582G>T | ||
NM_000113.2:c.998G>T | NP_000104.1:p.Ter333Leu | |
XR_929731.3:n.1193G>T | ||
NM_000113.3:c.998G>T MANE Select | NP_000104.1:p.Ter333Leu |