HGVS | Genome Assembly |
---|---|
NC_000007.14:g.150977892C>G , CM000669.2:g.150977892C>G | GRCh38 |
NC_000007.13:g.150674980C>G , CM000669.1:g.150674980C>G | GRCh37 |
NC_000007.12:g.150305913C>G | NCBI36 |
NG_008916.1:g.5035G>C , LRG_288:g.5035G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262186.10:c.22G>C MANE Select | ENSP00000262186.5:p.Val8Leu | |
ENST00000262186.9:c.22G>C | ENSP00000262186.5:p.Val8Leu | |
ENST00000430723.4:c.-156G>C | ENSP00000387657.4:n.-156G>C | |
ENST00000532957.5:n.245G>C | ||
NM_000238.3:c.22G>C , LRG_288t1:c.22G>C | NP_000229.1:p.Val8Leu | |
NM_172056.2:c.22G>C , LRG_288t2:c.22G>C | NP_742053.1:p.Val8Leu | |
XM_011516186.1:c.22G>C | XP_011514488.1:p.Val8Leu | |
XM_011516186.3:c.22G>C | XP_011514488.1:p.Val8Leu | |
NM_000238.4:c.22G>C MANE Select | NP_000229.1:p.Val8Leu |