Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65868544C>G , CM000673.2:g.65868544C>G | GRCh38 |
| NC_000011.9:g.65636015C>G , CM000673.1:g.65636015C>G | GRCh37 |
| NC_000011.8:g.65392591C>G | NCBI36 |
| NG_012304.2:g.9391G>C | |
| NG_053116.1:g.13483C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.813G>C MANE Select | ENSP00000309953.6:p.Gln271His | |
| ENST00000307998.10:c.813G>C | ENSP00000309953.6:p.Gln271His | |
| ENST00000526628.5:n.1379G>C | ||
| ENST00000527969.1:n.1498G>C | ||
| ENST00000528176.5:c.813G>C | ENSP00000434151.1:p.Gln271His | |
| ENST00000531005.5:n.1807G>C | ||
| ENST00000531972.5:c.813G>C | ENSP00000435295.1:p.Gln271His | |
| ENST00000532084.5:n.239G>C | ||
| NM_016938.4:c.813G>C | NP_058634.4:p.Gln271His | |
| NR_037718.1:n.1072G>C | ||
| NM_016938.5:c.813G>C MANE Select | NP_058634.4:p.Gln271His | |
| NR_037718.2:n.938G>C |