HGVS | Genome Assembly |
---|---|
NC_000009.12:g.136676603G>C , CM000671.2:g.136676603G>C | GRCh38 |
NC_000009.11:g.139571055G>C , CM000671.1:g.139571055G>C | GRCh37 |
NC_000009.10:g.138690876G>C | NCBI36 |
NG_008090.1:g.15857C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371696.7:c.570C>G MANE Select | ENSP00000360761.2:p.Tyr190Ter | |
ENST00000371694.7:c.492+358C>G | ENSP00000360759.3:n.492+358C>G | |
ENST00000371696.6:c.570C>G | ENSP00000360761.2:p.Tyr190Ter | |
ENST00000472820.1:n.498C>G | ||
ENST00000538402.1:c.570C>G | ENSP00000438919.1:p.Tyr190Ter | |
NM_001012727.1:c.492+358C>G | NP_001012745.1:n.492+358C>G | |
NM_006412.3:c.570C>G | NP_006403.2:p.Tyr190Ter | |
NM_006412.4:c.570C>G MANE Select | NP_006403.2:p.Tyr190Ter | |
NM_001012727.2:c.492+358C>G | NP_001012745.1:n.492+358C>G |