Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22843317C>G , CM000676.2:g.22843317C>G | GRCh38 |
| NC_000014.8:g.23312526C>G , CM000676.1:g.23312526C>G | GRCh37 |
| NC_000014.7:g.22382366C>G | NCBI36 |
| NG_046989.1:g.11785C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311852.11:c.749C>G MANE Select | ENSP00000308208.6:p.Ser250Cys | |
| ENST00000548162.2:c.749C>G | ENSP00000506068.1:p.Ser250Cys | |
| ENST00000680097.1:c.*64C>G | ENSP00000506631.1:n.*64C>G | |
| ENST00000680941.1:c.*147C>G | ENSP00000506378.1:n.*147C>G | |
| ENST00000311852.10:c.749C>G | ENSP00000308208.6:p.Ser250Cys | |
| ENST00000548162.1:n.991C>G | ||
| NM_004995.3:c.749C>G | NP_004986.1:p.Ser250Cys | |
| NM_004995.4:c.749C>G MANE Select | NP_004986.1:p.Ser250Cys |