HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122506790A>G , CM000672.2:g.122506790A>G | GRCh38 |
NC_000010.10:g.124266306A>G , CM000672.1:g.124266306A>G | GRCh37 |
NC_000010.9:g.124256296A>G | NCBI36 |
NG_011554.1:g.50266A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000368984.8:c.877A>G MANE Select | ENSP00000357980.3:p.Thr293Ala | |
ENST00000648167.1:c.559A>G | ENSP00000498033.1:p.Thr187Ala | |
ENST00000368984.7:c.877A>G | ENSP00000357980.3:p.Thr293Ala | |
ENST00000420892.1:c.100A>G | ENSP00000412676.1:p.Thr34Ala | |
NM_002775.4:c.877A>G | NP_002766.1:p.Thr293Ala | |
NM_002775.5:c.877A>G MANE Select | NP_002766.1:p.Thr293Ala |