HGVS | Genome Assembly |
---|---|
NC_000001.11:g.1014156C>G , CM000663.2:g.1014156C>G | GRCh38 |
NC_000001.10:g.949536C>G , CM000663.1:g.949536C>G | GRCh37 |
NC_000001.9:g.939399C>G | NCBI36 |
NG_033033.1:g.5690C>G | |
NG_033033.2:g.18019C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000624697.4:c.152C>G | ENSP00000485643.1:p.Pro51Arg | |
ENST00000649529.1:c.176C>G MANE Select | ENSP00000496832.1:p.Pro59Arg | |
ENST00000379389.4:c.176C>G | ENSP00000368699.4:p.Pro59Arg | |
ENST00000624652.1:c.152C>G | ENSP00000485313.1:p.Pro51Arg | |
ENST00000624697.3:c.152C>G | ENSP00000485643.1:p.Pro51Arg | |
NM_005101.3:c.176C>G | NP_005092.1:p.Pro59Arg | |
NM_005101.4:c.176C>G MANE Select | NP_005092.1:p.Pro59Arg |