HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171652030A>T , CM000663.2:g.171652030A>T | GRCh38 |
NC_000001.10:g.171621170A>T , CM000663.1:g.171621170A>T | GRCh37 |
NC_000001.9:g.169887793A>T | NCBI36 |
NG_008859.1:g.5604T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000037502.11:c.582T>A MANE Select | ENSP00000037502.5:p.Ala194= | |
ENST00000638471.1:c.130+452T>A | ENSP00000491206.1:n.130+452T>A | |
ENST00000037502.10:c.582T>A | ENSP00000037502.5:p.Ala194= | |
ENST00000614688.1:c.582T>A | ENSP00000478680.1:p.Ala194= | |
NM_000261.1:c.582T>A | NP_000252.1:p.Ala194= | |
NM_000261.2:c.582T>A MANE Select | NP_000252.1:p.Ala194= |