gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000799 (AFR)
Genomes Max Group AF
0.00000799 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98380563G>C , CM000671.2:g.98380563G>C | GRCh38 |
| NC_000009.11:g.101142845G>C , CM000671.1:g.101142845G>C | GRCh37 |
| NC_000009.10:g.100182666G>C | NCBI36 |
| NG_016426.1:g.333635C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.1662+5077C>G MANE Select | ENSP00000259455.2:n.1662+5077C>G | |
| ENST00000637410.1:n.1440+5077C>G | ||
| ENST00000259455.3:c.1662+5077C>G | ENSP00000259455.2:n.1662+5077C>G | |
| ENST00000634314.1:n.167+5077C>G | ||
| NM_005458.7:c.1662+5077C>G | NP_005449.5:n.1662+5077C>G | |
| XM_005252316.3:c.888+5077C>G | XP_005252373.1:n.888+5077C>G | |
| XM_005252316.5:c.888+5077C>G | XP_005252373.1:n.888+5077C>G | |
| XM_017015331.2:c.1368+5077C>G | XP_016870820.1:n.1368+5077C>G | |
| XM_017015332.2:c.888+5077C>G | XP_016870821.1:n.888+5077C>G | |
| NM_005458.8:c.1662+5077C>G MANE Select | NP_005449.5:n.1662+5077C>G |