Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65868612A>G , CM000673.2:g.65868612A>G | GRCh38 |
| NC_000011.9:g.65636083A>G , CM000673.1:g.65636083A>G | GRCh37 |
| NC_000011.8:g.65392659A>G | NCBI36 |
| NG_012304.2:g.9323T>C | |
| NG_053116.1:g.13551A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.745T>C MANE Select | ENSP00000309953.6:p.Tyr249His | |
| ENST00000307998.10:c.745T>C | ENSP00000309953.6:p.Tyr249His | |
| ENST00000526628.5:n.1311T>C | ||
| ENST00000527969.1:n.1430T>C | ||
| ENST00000528176.5:c.745T>C | ENSP00000434151.1:p.Tyr249His | |
| ENST00000531005.5:n.1739T>C | ||
| ENST00000531972.5:c.745T>C | ENSP00000435295.1:p.Tyr249His | |
| ENST00000532084.5:n.171T>C | ||
| NM_016938.4:c.745T>C | NP_058634.4:p.Tyr249His | |
| NR_037718.1:n.1004T>C | ||
| NM_016938.5:c.745T>C MANE Select | NP_058634.4:p.Tyr249His | |
| NR_037718.2:n.870T>C |