Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022726T>G , CM000663.2:g.17022726T>G | GRCh38 |
| NC_000001.10:g.17349221T>G , CM000663.1:g.17349221T>G | GRCh37 |
| NC_000001.9:g.17221808T>G | NCBI36 |
| NG_012340.1:g.36445A>C , LRG_316:g.36445A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.476A>C | ENSP00000481376.2:p.Tyr159Ser | |
| ENST00000491274.6:c.605A>C | ENSP00000480482.2:p.Tyr202Ser | |
| ENST00000375499.8:c.647A>C MANE Select | ENSP00000364649.3:p.Tyr216Ser | |
| ENST00000375499.7:c.647A>C | ENSP00000364649.3:p.Tyr216Ser | |
| ENST00000475049.5:n.72A>C | ||
| ENST00000485092.5:n.311A>C | ||
| ENST00000485515.5:n.581A>C | ||
| NM_003000.2:c.647A>C , LRG_316t1:c.647A>C | NP_002991.2:p.Tyr216Ser | |
| NM_003000.3:c.647A>C MANE Select | NP_002991.2:p.Tyr216Ser |