HGVS | Genome Assembly |
---|---|
NC_000009.12:g.136676595A>G , CM000671.2:g.136676595A>G | GRCh38 |
NC_000009.11:g.139571047A>G , CM000671.1:g.139571047A>G | GRCh37 |
NC_000009.10:g.138690868A>G | NCBI36 |
NG_008090.1:g.15865T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371696.7:c.578T>C MANE Select | ENSP00000360761.2:p.Val193Ala | |
ENST00000371694.7:c.492+366T>C | ENSP00000360759.3:n.492+366T>C | |
ENST00000371696.6:c.578T>C | ENSP00000360761.2:p.Val193Ala | |
ENST00000472820.1:n.506T>C | ||
ENST00000538402.1:c.578T>C | ENSP00000438919.1:p.Val193Ala | |
NM_001012727.1:c.492+366T>C | NP_001012745.1:n.492+366T>C | |
NM_006412.3:c.578T>C | NP_006403.2:p.Val193Ala | |
NM_006412.4:c.578T>C MANE Select | NP_006403.2:p.Val193Ala | |
NM_001012727.2:c.492+366T>C | NP_001012745.1:n.492+366T>C |