Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23191783C>G , CM000670.2:g.23191783C>G | GRCh38 |
| NC_000008.10:g.23049296C>G , CM000670.1:g.23049296C>G | GRCh37 |
| NC_000008.9:g.23105241C>G | NCBI36 |
| NG_032107.1:g.38385G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.1318G>C MANE Select | ENSP00000221132.3:p.Ala440Pro | |
| ENST00000221132.7:c.1318G>C | ENSP00000221132.3:p.Ala440Pro | |
| ENST00000613472.1:c.844G>C | ENSP00000480778.1:p.Ala282Pro | |
| NM_003844.3:c.1318G>C | NP_003835.3:p.Ala440Pro | |
| NM_003844.4:c.1318G>C MANE Select | NP_003835.3:p.Ala440Pro |