Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445639T>C , CM000663.2:g.15445639T>C | GRCh38 |
| NC_000001.10:g.15772134T>C , CM000663.1:g.15772134T>C | GRCh37 |
| NC_000001.9:g.15644721T>C | NCBI36 |
| NG_009253.1:g.12197T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.682T>C MANE Select | ENSP00000365116.4:p.Ser228Pro | |
| ENST00000375943.6:c.*136T>C | ENSP00000365110.2:n.*136T>C | |
| ENST00000375949.4:c.682T>C | ENSP00000365116.4:p.Ser228Pro | |
| ENST00000483406.1:n.446T>C | ||
| NM_007272.2:c.682T>C | NP_009203.2:p.Ser228Pro | |
| XM_011540550.1:c.536T>C | XP_011538852.1:p.Phe179Ser | |
| NM_007272.3:c.682T>C MANE Select | NP_009203.2:p.Ser228Pro |