HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67940819T>C , CM000678.2:g.67940819T>C | GRCh38 |
NC_000016.9:g.67974722T>C , CM000678.1:g.67974722T>C | GRCh37 |
NC_000016.8:g.66532223T>C | NCBI36 |
NG_009778.1:g.8294A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264005.10:c.749-341A>G MANE Select | ENSP00000264005.5:n.749-341A>G | |
ENST00000264005.9:c.749-341A>G | ENSP00000264005.5:n.749-341A>G | |
ENST00000570369.5:c.156-745A>G | ||
ENST00000570980.1:c.533-341A>G | ENSP00000464651.1:n.533-341A>G | |
ENST00000573538.5:c.404A>G | ENSP00000463220.1:p.His135Arg | |
NM_000229.1:c.749-341A>G | NP_000220.1:n.749-341A>G | |
NM_000229.2:c.749-341A>G MANE Select | NP_000220.1:n.749-341A>G |