HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99420631G>C , CM000666.2:g.99420631G>C | GRCh38 |
NC_000004.11:g.100341788G>C , CM000666.1:g.100341788G>C | GRCh37 |
NC_000004.10:g.100560811G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000437033.7:c.727C>G MANE Select | ENSP00000414254.2:p.Pro243Ala | |
ENST00000209665.8:c.763C>G | ENSP00000209665.4:p.Pro255Ala | |
ENST00000437033.6:c.727C>G | ENSP00000414254.2:p.Pro243Ala | |
ENST00000476959.5:c.787C>G | ENSP00000420269.1:p.Pro263Ala | |
ENST00000482593.5:c.556C>G | ENSP00000420613.1:p.Pro186Ala | |
NM_000673.4:c.763C>G | NP_000664.2:p.Pro255Ala | |
NM_001166504.1:c.787C>G | NP_001159976.1:p.Pro263Ala | |
NM_000673.7:c.727C>G MANE Select | NP_000664.3:p.Pro243Ala | |
NM_001166504.2:c.787C>G | NP_001159976.1:p.Pro263Ala |