Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160139973G>C , CM000663.2:g.160139973G>C | GRCh38 |
| NC_000001.10:g.160109763G>C , CM000663.1:g.160109763G>C | GRCh37 |
| NC_000001.9:g.158376387G>C | NCBI36 |
| NG_008014.1:g.29216G>C , LRG_6:g.29216G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361216.8:c.3023G>C MANE Select | ENSP00000354490.3:p.Arg1008Pro | |
| ENST00000361216.7:c.3023G>C | ENSP00000354490.3:p.Arg1008Pro | |
| ENST00000392233.7:c.2990G>C | ENSP00000376066.3:p.Arg997Pro | |
| ENST00000447527.1:c.2104G>C | ||
| ENST00000459972.1:n.15G>C | ||
| ENST00000463989.1:n.359G>C | ||
| NM_000702.3:c.3023G>C | NP_000693.1:p.Arg1008Pro | |
| NM_000702.4:c.3023G>C MANE Select | NP_000693.1:p.Arg1008Pro |