HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232523789C>G , CM000664.2:g.232523789C>G | GRCh38 |
NC_000002.11:g.233388499C>G , CM000664.1:g.233388499C>G | GRCh37 |
NC_000002.10:g.233096743C>G | NCBI36 |
NG_008028.1:g.2578C>G | |
NG_031969.1:g.8327C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000617714.2:c.1030C>G MANE Select | ENSP00000479745.1:p.Pro344Ala | |
ENST00000449534.6:c.1033C>G | ENSP00000473410.1:p.Pro345Ala | |
ENST00000617714.1:c.1030C>G | ENSP00000479745.1:p.Pro344Ala | |
NM_001195129.1:c.1030C>G | NP_001182058.1:p.Pro344Ala | |
NM_001195129.2:c.1030C>G MANE Select | NP_001182058.1:p.Pro344Ala | |
NM_001369848.1:c.1033C>G | NP_001356777.1:p.Pro345Ala |