gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005292 (AMR)
Genomes Max Group AF
0.00005292 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.19579429G>C , CM000671.2:g.19579429G>C | GRCh38 |
| NC_000009.11:g.19579427G>C , CM000671.1:g.19579427G>C | GRCh37 |
| NC_000009.10:g.19569427G>C | NCBI36 |
| NG_029734.1:g.212591C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286344.4:c.1079-2407C>G | ENSP00000286344.3:n.1079-2407C>G | |
| ENST00000341998.7:c.1130-2407C>G MANE Select | ENSP00000344801.1:n.1130-2407C>G | |
| ENST00000286344.3:c.1079-2407C>G | ENSP00000286344.3:n.1079-2407C>G | |
| ENST00000341998.6:c.1130-2407C>G | ENSP00000344801.1:n.1130-2407C>G | |
| NM_001193288.2:c.1079-2407C>G | NP_001180217.1:n.1079-2407C>G | |
| NM_020344.3:c.1130-2407C>G | NP_065077.1:n.1130-2407C>G | |
| XM_005251425.1:c.1130-2407C>G | XP_005251482.1:n.1130-2407C>G | |
| XM_005251426.3:c.1130-2407C>G | XP_005251483.1:n.1130-2407C>G | |
| XM_006716750.2:c.1079-2407C>G | XP_006716813.1:n.1079-2407C>G | |
| XM_005251425.2:c.1130-2407C>G | XP_005251482.1:n.1130-2407C>G | |
| XM_005251426.4:c.1130-2407C>G | XP_005251483.1:n.1130-2407C>G | |
| XM_006716750.4:c.1079-2407C>G | XP_006716813.1:n.1079-2407C>G | |
| XM_017014592.1:c.1130-2407C>G | XP_016870081.1:n.1130-2407C>G | |
| XM_017014593.1:c.1079-2407C>G | XP_016870082.1:n.1079-2407C>G | |
| NM_001193288.3:c.1079-2407C>G | NP_001180217.1:n.1079-2407C>G | |
| NM_001375850.1:c.1130-2407C>G | NP_001362779.1:n.1130-2407C>G | |
| NM_001375851.1:c.1079-2407C>G | NP_001362780.1:n.1079-2407C>G | |
| NM_020344.4:c.1130-2407C>G MANE Select | NP_065077.1:n.1130-2407C>G |