HGVS | Genome Assembly |
---|---|
NC_000019.10:g.15897500T>C , CM000681.2:g.15897500T>C | GRCh38 |
NC_000019.9:g.16008310T>C , CM000681.1:g.16008310T>C | GRCh37 |
NC_000019.8:g.15869310T>C | NCBI36 |
NG_007971.2:g.5575A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000221700.11:c.112A>G MANE Select | ENSP00000221700.3:p.Thr38Ala | |
ENST00000011989.11:c.112A>G | ENSP00000011989.8:p.Thr38Ala | |
ENST00000221700.10:c.112A>G | ENSP00000221700.3:p.Thr38Ala | |
ENST00000392846.7:n.49+526A>G | ||
ENST00000586927.2:c.112A>G | ENSP00000465514.1:p.Thr38Ala | |
ENST00000587671.2:c.112A>G | ENSP00000467443.2:p.Thr38Ala | |
ENST00000608168.1:n.165A>G | ||
NM_001082.4:c.112A>G | NP_001073.3:p.Thr38Ala | |
NM_001082.5:c.112A>G MANE Select | NP_001073.3:p.Thr38Ala |