HGVS | Genome Assembly |
---|---|
NC_000002.12:g.73913617C>T , CM000664.2:g.73913617C>T | GRCh38 |
NC_000002.11:g.74140744C>T , CM000664.1:g.74140744C>T | GRCh37 |
NC_000002.10:g.73994252C>T | NCBI36 |
NG_034140.1:g.25652C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000345517.8:c.584C>T MANE Select | ENSP00000295137.3:p.Thr195Ile | |
ENST00000345517.7:c.584C>T | ENSP00000295137.3:p.Thr195Ile | |
ENST00000409624.1:c.584C>T | ENSP00000386857.1:p.Thr195Ile | |
ENST00000409731.7:c.455C>T | ENSP00000386929.3:p.Thr152Ile | |
ENST00000438902.6:c.*649C>T | ENSP00000410706.2:n.*649C>T | |
NM_001199893.1:c.455C>T | NP_001186822.1:p.Thr152Ile | |
NM_001615.3:c.584C>T | NP_001606.1:p.Thr195Ile | |
NM_001199893.2:c.455C>T | NP_001186822.1:p.Thr152Ile | |
NM_001615.4:c.584C>T MANE Select | NP_001606.1:p.Thr195Ile |