HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129814124C>A , CM000671.2:g.129814124C>A | GRCh38 |
NC_000009.11:g.132576403C>A , CM000671.1:g.132576403C>A | GRCh37 |
NC_000009.10:g.131616224C>A | NCBI36 |
NG_008049.1:g.15039G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351698.5:c.847G>T MANE Select | ENSP00000345719.4:p.Val283Leu | |
ENST00000651202.1:c.*115G>T | ENSP00000498222.1:n.*115G>T | |
ENST00000351698.4:c.847G>T | ENSP00000345719.4:p.Val283Leu | |
ENST00000474192.1:n.431G>T | ||
NM_000113.2:c.847G>T | NP_000104.1:p.Val283Leu | |
XR_929731.1:n.1174G>T | ||
XR_929731.3:n.1042G>T | ||
NM_000113.3:c.847G>T MANE Select | NP_000104.1:p.Val283Leu |