HGVS | Genome Assembly |
---|---|
NC_000002.12:g.38074950C= , CM000664.2:g.38074950C= | GRCh38 |
NC_000002.11:g.38302093C= , CM000664.1:g.38302093C= | GRCh37 |
NC_000002.10:g.38155597C= | NCBI36 |
NG_008386.2:g.6152G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000490576.2:c.439G= | ENSP00000478839.2:p.Ala147= | |
ENST00000610745.5:c.439G= MANE Select | ENSP00000478561.1:p.Ala147= | |
ENST00000494864.1:c.-70-3640G= | ENSP00000479876.1:n.-70-3640G= | |
ENST00000610745.4:c.439G= | ENSP00000478561.1:p.Ala147= | |
ENST00000613082.1:n.376-542G= | ||
ENST00000614273.1:c.439G= | ENSP00000483678.1:p.Ala147= | |
NM_000104.3:c.439G= | NP_000095.2:p.Ala147= | |
NM_000104.4:c.439G= MANE Select | NP_000095.2:p.Ala147= |