HGVS | Genome Assembly |
---|---|
NC_000005.10:g.178989085G>C , CM000667.2:g.178989085G>C | GRCh38 |
NC_000005.9:g.178416086G>C , CM000667.1:g.178416086G>C | GRCh37 |
NC_000005.8:g.178348692G>C | NCBI36 |
NG_008105.1:g.11039C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000517717.3:c.1204C>G MANE Select | ENSP00000430767.1:p.Gln402Glu | |
ENST00000650031.1:c.1204C>G | ENSP00000497110.1:p.Gln402Glu | |
ENST00000231188.9:c.1204C>G | ENSP00000231188.5:p.Gln402Glu | |
ENST00000517717.1:c.1204C>G | ENSP00000430767.1:p.Gln402Glu | |
NM_000843.3:c.1204C>G | NP_000834.2:p.Gln402Glu | |
XR_941310.1:n.1470-662G>C | ||
NM_000843.4:c.1204C>G MANE Select | NP_000834.2:p.Gln402Glu |