gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000599 (NFE)
Genomes Max Group AF
0.00000659 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71618204C>A , CM000685.2:g.71618204C>A | GRCh38 |
| NC_000023.10:g.70838054C>A , CM000685.1:g.70838054C>A | GRCh37 |
| NC_000023.9:g.70754779C>A | NCBI36 |
| NG_029076.1:g.5314G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373693.4:c.12+234G>T MANE Select | ENSP00000362797.3:n.12+234G>T | |
| ENST00000373691.4:c.-92+234G>T | ENSP00000362795.4:n.-92+234G>T | |
| ENST00000373693.3:c.12+234G>T | ENSP00000362797.3:n.12+234G>T | |
| NM_001142797.1:c.-92+234G>T | NP_001136269.1:n.-92+234G>T | |
| NM_001504.1:c.12+234G>T | NP_001495.1:n.12+234G>T | |
| XM_005262256.2:c.42+127G>T | XP_005262313.1:n.42+127G>T | |
| XM_005262257.2:c.42+127G>T | XP_005262314.1:n.42+127G>T | |
| XM_005262256.3:c.42+127G>T | XP_005262313.1:n.42+127G>T | |
| XM_005262257.3:c.42+127G>T | XP_005262314.1:n.42+127G>T | |
| XM_017029435.1:c.-92+127G>T | XP_016884924.1:n.-92+127G>T | |
| XM_017029436.1:c.12+234G>T | XP_016884925.1:n.12+234G>T | |
| NM_001504.2:c.12+234G>T MANE Select | NP_001495.1:n.12+234G>T | |
| NM_001142797.2:c.-92+234G>T | NP_001136269.1:n.-92+234G>T |