Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223053290C>G , CM000664.2:g.223053290C>G | GRCh38 |
| NC_000002.11:g.223918008C>G , CM000664.1:g.223918008C>G | GRCh37 |
| NC_000002.10:g.223626252C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281830.4:c.460C>G MANE Select | ENSP00000281830.5:p.Pro154Ala | |
| ENST00000281830.3:c.613C>G | ENSP00000281830.4:p.Pro205Ala | |
| ENST00000488477.2:n.75+1016C>G | ||
| NM_080671.3:c.613C>G | NP_542402.3:p.Pro205Ala | |
| NM_080671.4:c.460C>G MANE Select | NP_542402.4:p.Pro154Ala |