Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65868545T>G , CM000673.2:g.65868545T>G | GRCh38 |
| NC_000011.9:g.65636016T>G , CM000673.1:g.65636016T>G | GRCh37 |
| NC_000011.8:g.65392592T>G | NCBI36 |
| NG_012304.2:g.9390A>C | |
| NG_053116.1:g.13484T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.812A>C MANE Select | ENSP00000309953.6:p.Gln271Pro | |
| ENST00000307998.10:c.812A>C | ENSP00000309953.6:p.Gln271Pro | |
| ENST00000526628.5:n.1378A>C | ||
| ENST00000527969.1:n.1497A>C | ||
| ENST00000528176.5:c.812A>C | ENSP00000434151.1:p.Gln271Pro | |
| ENST00000531005.5:n.1806A>C | ||
| ENST00000531972.5:c.812A>C | ENSP00000435295.1:p.Gln271Pro | |
| ENST00000532084.5:n.238A>C | ||
| NM_016938.4:c.812A>C | NP_058634.4:p.Gln271Pro | |
| NR_037718.1:n.1071A>C | ||
| NM_016938.5:c.812A>C MANE Select | NP_058634.4:p.Gln271Pro | |
| NR_037718.2:n.937A>C |