ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00022774 (SAS)
Genomes Max Group AF
0.00007285 (SAS)
Exomes Max Group AF
0.00022074 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220596C>G , CM000679.2:g.7220596C>G | GRCh38 |
| NC_000017.10:g.7123915C>G , CM000679.1:g.7123915C>G | GRCh37 |
| NC_000017.9:g.7064639C>G | NCBI36 |
| NG_007975.1:g.5763C>G | |
| NG_008391.2:g.4455G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.205-8C>G MANE Select | ENSP00000349297.5:n.205-8C>G | |
| ENST00000322910.9:c.*160-8C>G | ENSP00000325395.5:n.*160-8C>G | |
| ENST00000350303.9:c.139-8C>G | ENSP00000344152.5:n.139-8C>G | |
| ENST00000356839.9:c.205-8C>G | ENSP00000349297.5:n.205-8C>G | |
| ENST00000543245.6:c.274-8C>G | ENSP00000438689.2:n.274-8C>G | |
| ENST00000577191.5:n.282-8C>G | ||
| ENST00000577433.5:n.405C>G | ||
| ENST00000577857.5:n.229-170C>G | ||
| ENST00000578269.5:n.644C>G | ||
| ENST00000578421.1:n.405C>G | ||
| ENST00000579286.5:n.378C>G | ||
| ENST00000579886.2:c.201+70C>G | ENSP00000463246.1:n.201+70C>G | |
| ENST00000580263.5:n.361C>G | ||
| ENST00000581562.5:n.252-8C>G | ||
| ENST00000582056.5:n.295-8C>G | ||
| ENST00000582166.1:n.93-8C>G | ||
| ENST00000582356.5:n.396C>G | ||
| ENST00000583312.5:c.205-8C>G | ENSP00000467920.1:n.205-8C>G | |
| ENST00000584103.5:c.205-8C>G | ENSP00000465353.1:n.205-8C>G | |
| NM_000018.3:c.205-8C>G | NP_000009.1:n.205-8C>G | |
| NM_001033859.2:c.139-8C>G | NP_001029031.1:n.139-8C>G | |
| NM_001270447.1:c.274-8C>G | NP_001257376.1:n.274-8C>G | |
| NM_001270448.1:c.-24-8C>G | NP_001257377.1:n.-24-8C>G | |
| XM_006721516.2:c.205-8C>G | XP_006721579.2:n.205-8C>G | |
| XM_011523829.1:c.205-8C>G | XP_011522131.1:n.205-8C>G | |
| XM_011523830.1:c.205-8C>G | XP_011522132.1:n.205-8C>G | |
| XR_934021.1:n.312-8C>G | ||
| XR_934022.1:n.312-8C>G | ||
| XR_934023.1:n.312-8C>G | ||
| XM_006721516.3:c.205-8C>G | XP_006721579.2:n.205-8C>G | |
| XM_011523829.2:c.205-8C>G | XP_011522131.1:n.205-8C>G | |
| XM_011523830.2:c.205-8C>G | XP_011522132.1:n.205-8C>G | |
| XM_024450741.1:c.205-8C>G | XP_024306509.1:n.205-8C>G | |
| XR_934021.2:n.264-8C>G | ||
| XR_934022.2:n.264-8C>G | ||
| XR_934023.2:n.264-8C>G | ||
| NM_000018.4:c.205-8C>G MANE Select | NP_000009.1:n.205-8C>G | |
| NM_001033859.3:c.139-8C>G | NP_001029031.1:n.139-8C>G | |
| NM_001270447.2:c.274-8C>G | NP_001257376.1:n.274-8C>G | |
| NM_001270448.2:c.-24-8C>G | NP_001257377.1:n.-24-8C>G |