Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47572977C>G , CM000685.2:g.47572977C>G | GRCh38 |
| NC_000023.10:g.47432376C>G , CM000685.1:g.47432376C>G | GRCh37 |
| NC_000023.9:g.47317320C>G | NCBI36 |
| NG_008437.1:g.51881G>C | |
| NG_016339.1:g.16861C>G | |
| NG_016339.2:g.16861C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.2005G>C MANE Select | ENSP00000295987.7:p.Ala669Pro | |
| ENST00000340666.5:c.1983-16G>C | ENSP00000343206.4:n.1983-16G>C | |
| ENST00000640721.1:c.71-16G>C | ENSP00000492857.1:n.71-16G>C | |
| ENST00000295987.11:c.2005G>C | ENSP00000295987.7:p.Ala669Pro | |
| ENST00000340666.4:c.1983-16G>C | ENSP00000343206.4:n.1983-16G>C | |
| NM_006950.3:c.2005G>C MANE Select | NP_008881.2:p.Ala669Pro | |
| NM_133499.2:c.1983-16G>C | NP_598006.1:n.1983-16G>C |