HGVS | Genome Assembly |
---|---|
NC_000019.10:g.15897486A>G , CM000681.2:g.15897486A>G | GRCh38 |
NC_000019.9:g.16008296A>G , CM000681.1:g.16008296A>G | GRCh37 |
NC_000019.8:g.15869296A>G | NCBI36 |
NG_007971.2:g.5589T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221700.11:c.126T>C MANE Select | ENSP00000221700.3:p.Tyr42= | |
ENST00000011989.11:c.126T>C | ENSP00000011989.8:p.Tyr42= | |
ENST00000221700.10:c.126T>C | ENSP00000221700.3:p.Tyr42= | |
ENST00000392846.7:n.49+540T>C | ||
ENST00000586927.2:c.126T>C | ENSP00000465514.1:p.Tyr42= | |
ENST00000587671.2:c.126T>C | ENSP00000467443.2:p.Tyr42= | |
ENST00000608168.1:n.179T>C | ||
NM_001082.4:c.126T>C | NP_001073.3:p.Tyr42= | |
NM_001082.5:c.126T>C MANE Select | NP_001073.3:p.Tyr42= |