Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40866964T>G , CM000679.2:g.40866964T>G | GRCh38 |
| NC_000017.10:g.39023216T>G , CM000679.1:g.39023216T>G | GRCh37 |
| NC_000017.9:g.36276742T>G | NCBI36 |
| NG_008077.1:g.5247A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251643.5:c.223A>C MANE Select | ENSP00000251643.4:p.Ser75Arg | |
| ENST00000647902.1:c.211+12A>C | ENSP00000497770.1:n.211+12A>C | |
| ENST00000251643.4:c.223A>C | ENSP00000251643.4:p.Ser75Arg | |
| NM_000223.3:c.223A>C | NP_000214.1:p.Ser75Arg | |
| XR_934754.1:n.1500+16104T>G | ||
| XR_934754.2:n.2008+16104T>G | ||
| NM_000223.4:c.223A>C MANE Select | NP_000214.1:p.Ser75Arg |