Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29489324C>G , CM000684.2:g.29489324C>G | GRCh38 |
| NC_000022.10:g.29885313C>G , CM000684.1:g.29885313C>G | GRCh37 |
| NC_000022.9:g.28215313C>G | NCBI36 |
| NG_008404.1:g.14133C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021076.4:c.1684C>G MANE Select | NP_066554.2:p.Pro562Ala |
| ENST00000310624.7:c.1684C>G MANE Select | ENSP00000311997.6:p.Pro562Ala |
| NM_021076.3:c.1684C>G | NP_066554.2:p.Pro562Ala |
| ENST00000310624.6:c.1684C>G | ENSP00000311997.6:p.Pro562Ala |
| XM_011530200.1:c.1652+32C>G | XP_011528502.1:n.1652+32C>G |
| XM_011530200.2:c.1652+32C>G | XP_011528502.1:n.1652+32C>G |