Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45766962A>G , CM000681.2:g.45766962A>G | GRCh38 |
| NC_000019.9:g.46270220A>G , CM000681.1:g.46270220A>G | GRCh37 |
| NC_000019.8:g.50962060A>G | NCBI36 |
| NG_012745.1:g.7278T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.997T>C MANE Select | ENSP00000316842.4:p.Ser333Pro | |
| ENST00000317578.6:c.997T>C | ENSP00000316842.4:p.Ser333Pro | |
| ENST00000560160.1:c.587-851T>C | ||
| ENST00000560168.1:c.*185T>C | ENSP00000453189.2:n.*185T>C | |
| ENST00000622857.1:c.16-1000T>C | ENSP00000481365.1:n.16-1000T>C | |
| NM_175875.4:c.997T>C | NP_787071.2:p.Ser333Pro | |
| NM_175875.5:c.997T>C MANE Select | NP_787071.3:p.Ser333Pro |