gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06777826 (AFR)
Genomes Max Group AF
0.06777826 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66530870T>C , CM000679.2:g.66530870T>C | GRCh38 |
| NC_000017.10:g.64526988T>C , CM000679.1:g.64526988T>C | GRCh37 |
| NC_000017.9:g.61957450T>C | NCBI36 |
| NG_012206.1:g.233063T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413366.8:c.288+34587T>C MANE Select | ENSP00000408695.3:n.288+34587T>C | |
| ENST00000284384.6:c.281-23649T>C | ||
| ENST00000413366.7:c.288+34587T>C | ENSP00000408695.3:n.288+34587T>C | |
| ENST00000578063.5:c.288+34587T>C | ENSP00000462087.1:n.288+34587T>C | |
| NM_002737.2:c.288+34587T>C | NP_002728.1:n.288+34587T>C | |
| XM_011524989.1:c.30+16404T>C | XP_011523291.1:n.30+16404T>C | |
| XM_011524990.1:c.288+34587T>C | XP_011523292.1:n.288+34587T>C | |
| XM_011524991.1:c.288+34587T>C | XP_011523293.1:n.288+34587T>C | |
| XM_011524992.1:c.288+34587T>C | XP_011523294.1:n.288+34587T>C | |
| XM_017024836.2:c.288+34587T>C | XP_016880325.1:n.288+34587T>C | |
| XM_017024837.1:c.135+34587T>C | XP_016880326.1:n.135+34587T>C | |
| XM_017024841.1:c.288+34587T>C | XP_016880330.1:n.288+34587T>C | |
| XM_024450829.1:c.30+16404T>C | XP_024306597.1:n.30+16404T>C | |
| XM_024450830.1:c.30+16404T>C | XP_024306598.1:n.30+16404T>C | |
| XR_001752558.1:n.500+34587T>C | ||
| NM_002737.3:c.288+34587T>C MANE Select | NP_002728.2:n.288+34587T>C |