HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99420613G>C , CM000666.2:g.99420613G>C | GRCh38 |
NC_000004.11:g.100341770G>C , CM000666.1:g.100341770G>C | GRCh37 |
NC_000004.10:g.100560793G>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000437033.7:c.745C>G MANE Select | ENSP00000414254.2:p.Pro249Ala | |
ENST00000209665.8:c.781C>G | ENSP00000209665.4:p.Pro261Ala | |
ENST00000437033.6:c.745C>G | ENSP00000414254.2:p.Pro249Ala | |
ENST00000476959.5:c.805C>G | ENSP00000420269.1:p.Pro269Ala | |
ENST00000482593.5:c.574C>G | ENSP00000420613.1:p.Pro192Ala | |
NM_000673.4:c.781C>G | NP_000664.2:p.Pro261Ala | |
NM_001166504.1:c.805C>G | NP_001159976.1:p.Pro269Ala | |
NM_000673.7:c.745C>G MANE Select | NP_000664.3:p.Pro249Ala | |
NM_001166504.2:c.805C>G | NP_001159976.1:p.Pro269Ala |