HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48303942C>G , CM000675.2:g.48303942C>G | GRCh38 |
NC_000013.10:g.48878078C>G , CM000675.1:g.48878078C>G | GRCh37 |
NC_000013.9:g.47776079C>G | NCBI36 |
NG_009009.1:g.5196C>G , LRG_517:g.5196C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.30C>G MANE Select | ENSP00000267163.4:p.Ala10= | |
ENST00000646097.1:c.30C>G | ENSP00000496556.1:p.Ala10= | |
ENST00000650461.1:c.30C>G | ENSP00000497193.1:p.Ala10= | |
ENST00000267163.4:c.30C>G | ENSP00000267163.4:p.Ala10= | |
ENST00000467505.5:c.30C>G | ENSP00000434702.1:p.Ala10= | |
ENST00000525036.1:n.192C>G | ||
NM_000321.2:c.30C>G , LRG_517t1:c.30C>G | NP_000312.2:p.Ala10= | |
NM_000321.3:c.30C>G MANE Select | NP_000312.2:p.Ala10= |