gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67698672 (SAS)
Genomes Max Group AF
0.65317294 (SAS)
Exomes Max Group AF
0.67772619 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120873843C>A , CM000671.2:g.120873843C>A | GRCh38 |
| NC_000009.11:g.123636121C>A , CM000671.1:g.123636121C>A | GRCh37 |
| NC_000009.10:g.122675942C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373896.8:c.268+136G>T MANE Select | ENSP00000363003.3:n.268+136G>T | |
| ENST00000616568.5:c.325+136G>T | ENSP00000483946.1:n.325+136G>T | |
| ENST00000312189.10:c.268+136G>T | ENSP00000310372.6:n.268+136G>T | |
| ENST00000373896.7:c.268+136G>T | ENSP00000363003.3:n.268+136G>T | |
| ENST00000436309.5:c.268+136G>T | ENSP00000408479.1:n.268+136G>T | |
| ENST00000456291.1:c.268+136G>T | ENSP00000397935.1:n.268+136G>T | |
| ENST00000616568.4:c.325+136G>T | ENSP00000483946.1:n.325+136G>T | |
| NM_001009936.2:c.268+136G>T | NP_001009936.1:n.268+136G>T | |
| NM_001286840.1:c.325+136G>T | NP_001273769.1:n.325+136G>T | |
| NM_001286843.1:c.268+136G>T | NP_001273772.1:n.268+136G>T | |
| NM_015651.2:c.268+136G>T | NP_056466.1:n.268+136G>T | |
| XM_005251906.1:c.268+136G>T | XP_005251963.1:n.268+136G>T | |
| XM_011518509.1:c.268+136G>T | XP_011516811.1:n.268+136G>T | |
| XM_011518510.1:c.268+136G>T | XP_011516812.1:n.268+136G>T | |
| XM_011518511.1:c.325+136G>T | XP_011516813.1:n.325+136G>T | |
| XM_011518512.1:c.-64+136G>T | XP_011516814.1:n.-64+136G>T | |
| XM_011518513.1:c.-64+136G>T | XP_011516815.1:n.-64+136G>T | |
| XM_011518514.1:c.-221+136G>T | XP_011516816.1:n.-221+136G>T | |
| XM_011518515.1:c.325+136G>T | XP_011516817.1:n.325+136G>T | |
| XM_011518516.1:c.325+136G>T | XP_011516818.1:n.325+136G>T | |
| XR_929758.1:n.346+136G>T | ||
| XR_929759.1:n.346+136G>T | ||
| XM_005251906.3:c.268+136G>T | XP_005251963.1:n.268+136G>T | |
| XM_011518509.3:c.268+136G>T | XP_011516811.1:n.268+136G>T | |
| XM_011518511.2:c.325+136G>T | XP_011516813.1:n.325+136G>T | |
| XM_011518515.2:c.325+136G>T | XP_011516817.1:n.325+136G>T | |
| XM_011518516.2:c.325+136G>T | XP_011516818.1:n.325+136G>T | |
| XM_017014612.2:c.268+136G>T | XP_016870101.1:n.268+136G>T | |
| XM_017014613.1:c.325+136G>T | XP_016870102.1:n.325+136G>T | |
| XM_024447504.1:c.-64+136G>T | XP_024303272.1:n.-64+136G>T | |
| XM_024447505.1:c.-64+136G>T | XP_024303273.1:n.-64+136G>T | |
| XM_024447506.1:c.-221+136G>T | XP_024303274.1:n.-221+136G>T | |
| XM_024447507.1:c.-248+136G>T | XP_024303275.1:n.-248+136G>T | |
| XR_929758.3:n.856+136G>T | ||
| NM_015651.3:c.268+136G>T MANE Select | NP_056466.1:n.268+136G>T | |
| NM_001009936.3:c.268+136G>T | NP_001009936.1:n.268+136G>T | |
| NM_001286843.2:c.268+136G>T | NP_001273772.1:n.268+136G>T |