HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48304039C>G , CM000675.2:g.48304039C>G | GRCh38 |
NC_000013.10:g.48878175C>G , CM000675.1:g.48878175C>G | GRCh37 |
NC_000013.9:g.47776176C>G | NCBI36 |
NG_009009.1:g.5293C>G , LRG_517:g.5293C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.127C>G MANE Select | ENSP00000267163.4:p.Pro43Ala | |
ENST00000646097.1:c.127C>G | ENSP00000496556.1:p.Pro43Ala | |
ENST00000650461.1:c.127C>G | ENSP00000497193.1:p.Pro43Ala | |
ENST00000267163.4:c.127C>G | ENSP00000267163.4:p.Pro43Ala | |
ENST00000467505.5:c.127C>G | ENSP00000434702.1:p.Pro43Ala | |
ENST00000525036.1:n.289C>G | ||
NM_000321.2:c.127C>G , LRG_517t1:c.127C>G | NP_000312.2:p.Pro43Ala | |
NM_000321.3:c.127C>G MANE Select | NP_000312.2:p.Pro43Ala |