HGVS | Genome Assembly |
---|---|
NC_000007.14:g.129210403C>G , CM000669.2:g.129210403C>G | GRCh38 |
NC_000007.13:g.128850244C>G , CM000669.1:g.128850244C>G | GRCh37 |
NC_000007.12:g.128637480C>G | NCBI36 |
NG_023340.1:g.26532C>G | |
NG_023340.2:g.26532C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000249373.8:c.1507C>G MANE Select | ENSP00000249373.3:p.Pro503Ala | |
ENST00000655644.1:c.*1262C>G | ENSP00000499377.1:n.*1262C>G | |
ENST00000249373.7:c.1507C>G | ENSP00000249373.3:p.Pro503Ala | |
ENST00000462420.2:c.478C>G | ||
NM_005631.4:c.1507C>G | NP_005622.1:p.Pro503Ala | |
XM_011516522.1:c.1117C>G | XP_011514824.1:p.Pro373Ala | |
XM_024446891.1:c.1117C>G | XP_024302659.1:p.Pro373Ala | |
NM_005631.5:c.1507C>G MANE Select | NP_005622.1:p.Pro503Ala |