Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65868594G>C , CM000673.2:g.65868594G>C | GRCh38 |
| NC_000011.9:g.65636065G>C , CM000673.1:g.65636065G>C | GRCh37 |
| NC_000011.8:g.65392641G>C | NCBI36 |
| NG_012304.2:g.9341C>G | |
| NG_053116.1:g.13533G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.763C>G MANE Select | ENSP00000309953.6:p.Gln255Glu | |
| ENST00000307998.10:c.763C>G | ENSP00000309953.6:p.Gln255Glu | |
| ENST00000526628.5:n.1329C>G | ||
| ENST00000527969.1:n.1448C>G | ||
| ENST00000528176.5:c.763C>G | ENSP00000434151.1:p.Gln255Glu | |
| ENST00000531005.5:n.1757C>G | ||
| ENST00000531972.5:c.763C>G | ENSP00000435295.1:p.Gln255Glu | |
| ENST00000532084.5:n.189C>G | ||
| NM_016938.4:c.763C>G | NP_058634.4:p.Gln255Glu | |
| NR_037718.1:n.1022C>G | ||
| NM_016938.5:c.763C>G MANE Select | NP_058634.4:p.Gln255Glu | |
| NR_037718.2:n.888C>G |