gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25104874 (SAS)
Genomes Max Group AF
0.25104874 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.56661246C>T , CM000663.2:g.56661246C>T | GRCh38 |
| NC_000001.10:g.57126919C>T , CM000663.1:g.57126919C>T | GRCh37 |
| NC_000001.9:g.56899507C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371244.9:c.95-13135C>T MANE Select | ENSP00000360290.4:n.95-13135C>T | |
| ENST00000371244.8:c.95-13135C>T | ENSP00000360290.4:n.95-13135C>T | |
| ENST00000610361.1:c.88-10195C>T | ENSP00000481378.1:n.88-10195C>T | |
| NM_006252.3:c.95-13135C>T | NP_006243.2:n.95-13135C>T | |
| XM_017001692.1:c.-177+4182C>T | XP_016857181.1:n.-177+4182C>T | |
| XM_017001693.1:c.-176-13135C>T | XP_016857182.1:n.-176-13135C>T | |
| XM_017001694.1:c.-177+6150C>T | XP_016857183.1:n.-177+6150C>T | |
| XR_001737290.1:n.166-13135C>T | ||
| NM_006252.4:c.95-13135C>T MANE Select | NP_006243.2:n.95-13135C>T |