HGVS | Genome Assembly |
---|---|
NC_000008.11:g.24956375C>T , CM000670.2:g.24956375C>T | GRCh38 |
NC_000008.10:g.24813889C>T , CM000670.1:g.24813889C>T | GRCh37 |
NC_000008.9:g.24869806C>T | NCBI36 |
NG_008492.1:g.5243G>A , LRG_259:g.5243G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000610854.2:c.141G>A MANE Select | ENSP00000482169.2:p.Val47= | |
ENST00000610854.1:c.141G>A | ENSP00000482169.1:p.Val47= | |
ENST00000615973.1:n.347G>A | ||
ENST00000619417.1:c.141G>A | ENSP00000483690.1:p.Val47= | |
NM_006158.4:c.141G>A , LRG_259t1:c.141G>A | NP_006149.2:p.Val47= | |
NM_006158.5:c.141G>A MANE Select | NP_006149.2:p.Val47= |