Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022730C>G , CM000663.2:g.17022730C>G | GRCh38 |
| NC_000001.10:g.17349225C>G , CM000663.1:g.17349225C>G | GRCh37 |
| NC_000001.9:g.17221812C>G | NCBI36 |
| NG_012340.1:g.36441G>C , LRG_316:g.36441G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.472G>C | ENSP00000481376.2:p.Ala158Pro | |
| ENST00000491274.6:c.601G>C | ENSP00000480482.2:p.Ala201Pro | |
| ENST00000375499.8:c.643G>C MANE Select | ENSP00000364649.3:p.Ala215Pro | |
| ENST00000375499.7:c.643G>C | ENSP00000364649.3:p.Ala215Pro | |
| ENST00000475049.5:n.68G>C | ||
| ENST00000485092.5:n.307G>C | ||
| ENST00000485515.5:n.577G>C | ||
| NM_003000.2:c.643G>C , LRG_316t1:c.643G>C | NP_002991.2:p.Ala215Pro | |
| NM_003000.3:c.643G>C MANE Select | NP_002991.2:p.Ala215Pro |