HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129818812G>T , CM000671.2:g.129818812G>T | GRCh38 |
NC_000009.11:g.132581091G>T , CM000671.1:g.132581091G>T | GRCh37 |
NC_000009.10:g.131620912G>T | NCBI36 |
NG_008049.1:g.10351C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351698.5:c.553C>A MANE Select | ENSP00000345719.4:p.Pro185Thr | |
ENST00000651202.1:c.649C>A | ENSP00000498222.1:p.Pro217Thr | |
ENST00000351698.4:c.553C>A | ENSP00000345719.4:p.Pro185Thr | |
ENST00000473604.2:n.663C>A | ||
NM_000113.2:c.553C>A | NP_000104.1:p.Pro185Thr | |
XR_929731.1:n.713C>A | ||
XR_929731.3:n.581C>A | ||
NM_000113.3:c.553C>A MANE Select | NP_000104.1:p.Pro185Thr |