Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65868593T>G , CM000673.2:g.65868593T>G | GRCh38 |
| NC_000011.9:g.65636064T>G , CM000673.1:g.65636064T>G | GRCh37 |
| NC_000011.8:g.65392640T>G | NCBI36 |
| NG_012304.2:g.9342A>C | |
| NG_053116.1:g.13532T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.764A>C MANE Select | ENSP00000309953.6:p.Gln255Pro | |
| ENST00000307998.10:c.764A>C | ENSP00000309953.6:p.Gln255Pro | |
| ENST00000526628.5:n.1330A>C | ||
| ENST00000527969.1:n.1449A>C | ||
| ENST00000528176.5:c.764A>C | ENSP00000434151.1:p.Gln255Pro | |
| ENST00000531005.5:n.1758A>C | ||
| ENST00000531972.5:c.764A>C | ENSP00000435295.1:p.Gln255Pro | |
| ENST00000532084.5:n.190A>C | ||
| NM_016938.4:c.764A>C | NP_058634.4:p.Gln255Pro | |
| NR_037718.1:n.1023A>C | ||
| NM_016938.5:c.764A>C MANE Select | NP_058634.4:p.Gln255Pro | |
| NR_037718.2:n.889A>C |