HGVS | Genome Assembly |
---|---|
NC_000002.12:g.38075260C>A , CM000664.2:g.38075260C>A | GRCh38 |
NC_000002.11:g.38302403C>A , CM000664.1:g.38302403C>A | GRCh37 |
NC_000002.10:g.38155907C>A | NCBI36 |
NG_008386.2:g.5842G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000490576.2:c.129G>T | ENSP00000478839.2:p.Arg43= | |
ENST00000610745.5:c.129G>T MANE Select | ENSP00000478561.1:p.Arg43= | |
ENST00000490576.1:c.129G>T | ENSP00000478839.1:p.Arg43= | |
ENST00000494864.1:c.-70-3950G>T | ENSP00000479876.1:n.-70-3950G>T | |
ENST00000610745.4:c.129G>T | ENSP00000478561.1:p.Arg43= | |
ENST00000613082.1:n.375+520G>T | ||
ENST00000614273.1:c.129G>T | ENSP00000483678.1:p.Arg43= | |
NM_000104.3:c.129G>T | NP_000095.2:p.Arg43= | |
NM_000104.4:c.129G>T MANE Select | NP_000095.2:p.Arg43= |