HGVS | Genome Assembly |
---|---|
NC_000004.12:g.42962895C>G , CM000666.2:g.42962895C>G | GRCh38 |
NC_000004.11:g.42964912C>G , CM000666.1:g.42964912C>G | GRCh37 |
NC_000004.10:g.42659669C>G | NCBI36 |
NG_027718.1:g.74630C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000399770.3:c.388C>G MANE Select | ENSP00000382670.2:p.Pro130Ala | |
ENST00000399770.2:c.388C>G | ENSP00000382670.2:p.Pro130Ala | |
NM_001080476.2:c.388C>G | NP_001073945.1:p.Pro130Ala | |
XM_011513691.1:c.25C>G | XP_011511993.1:p.Pro9Ala | |
NM_001080476.3:c.388C>G MANE Select | NP_001073945.1:p.Pro130Ala |