HGVS | Genome Assembly |
---|---|
NC_000004.12:g.177442340C>A , CM000666.2:g.177442340C>A | GRCh38 |
NC_000004.11:g.178363494C>A , CM000666.1:g.178363494C>A | GRCh37 |
NC_000004.10:g.178600488C>A | NCBI36 |
NG_011845.2:g.5164G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264595.7:c.36G>T MANE Select | ENSP00000264595.2:p.Val12= | |
ENST00000264595.6:c.36G>T | ENSP00000264595.2:p.Val12= | |
ENST00000506853.5:n.70G>T | ||
ENST00000510955.5:n.70G>T | ||
ENST00000511231.1:n.70G>T | ||
NM_000027.3:c.36G>T | NP_000018.2:p.Val12= | |
NM_001171988.1:c.36G>T | NP_001165459.1:p.Val12= | |
NR_033655.1:n.164G>T | ||
XM_006714123.2:c.36G>T | XP_006714186.1:p.Val12= | |
XR_001741155.2:n.130G>T | ||
NM_000027.4:c.36G>T MANE Select | NP_000018.2:p.Val12= | |
NM_001171988.2:c.36G>T | NP_001165459.1:p.Val12= | |
NR_033655.2:n.98G>T |