HGVS | Genome Assembly |
---|---|
NC_000002.12:g.38075248G= , CM000664.2:g.38075248G= | GRCh38 |
NC_000002.11:g.38302391G= , CM000664.1:g.38302391G= | GRCh37 |
NC_000002.10:g.38155895G= | NCBI36 |
NG_008386.2:g.5854C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000490576.2:c.141C= | ENSP00000478839.2:p.Leu47= | |
ENST00000610745.5:c.141C= MANE Select | ENSP00000478561.1:p.Leu47= | |
ENST00000490576.1:c.141C= | ENSP00000478839.1:p.Leu47= | |
ENST00000494864.1:c.-70-3938C= | ENSP00000479876.1:n.-70-3938C= | |
ENST00000610745.4:c.141C= | ENSP00000478561.1:p.Leu47= | |
ENST00000613082.1:n.375+532C= | ||
ENST00000614273.1:c.141C= | ENSP00000483678.1:p.Leu47= | |
NM_000104.3:c.141C= | NP_000095.2:p.Leu47= | |
NM_000104.4:c.141C= MANE Select | NP_000095.2:p.Leu47= |