HGVS | Genome Assembly |
---|---|
NC_000002.12:g.38074949G>A , CM000664.2:g.38074949G>A | GRCh38 |
NC_000002.11:g.38302092G>A , CM000664.1:g.38302092G>A | GRCh37 |
NC_000002.10:g.38155596G>A | NCBI36 |
NG_008386.2:g.6153C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000490576.2:c.440C>T | ENSP00000478839.2:p.Ala147Val | |
ENST00000610745.5:c.440C>T MANE Select | ENSP00000478561.1:p.Ala147Val | |
ENST00000494864.1:c.-70-3639C>T | ENSP00000479876.1:n.-70-3639C>T | |
ENST00000610745.4:c.440C>T | ENSP00000478561.1:p.Ala147Val | |
ENST00000613082.1:n.376-541C>T | ||
ENST00000614273.1:c.440C>T | ENSP00000483678.1:p.Ala147Val | |
NM_000104.3:c.440C>T | NP_000095.2:p.Ala147Val | |
NM_000104.4:c.440C>T MANE Select | NP_000095.2:p.Ala147Val |