gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38462673 (NFE)
Genomes Max Group AF
0.37697126 (NFE)
Exomes Max Group AF
0.38501345 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.205268009T>C , CM000663.2:g.205268009T>C | GRCh38 |
| NC_000001.10:g.205237137T>C , CM000663.1:g.205237137T>C | GRCh37 |
| NC_000001.9:g.203503760T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330675.12:c.163-941T>C | ENSP00000331842.7:n.163-941T>C | |
| ENST00000358024.8:c.748-941T>C MANE Select | ENSP00000350718.3:n.748-941T>C | |
| ENST00000481950.2:n.73-941T>C | ||
| ENST00000637895.1:c.73-941T>C | ENSP00000490308.1:n.73-941T>C | |
| ENST00000329800.7:c.28-941T>C | ENSP00000329436.6:n.28-941T>C | |
| ENST00000330675.11:c.73-941T>C | ENSP00000331842.6:n.73-941T>C | |
| ENST00000358024.7:c.748-941T>C | ENSP00000350718.3:n.748-941T>C | |
| ENST00000367159.2:c.160-941T>C | ENSP00000356127.2:n.160-941T>C | |
| ENST00000468846.5:n.217-3111T>C | ||
| ENST00000481950.1:n.137-941T>C | ||
| ENST00000495538.5:n.979-941T>C | ||
| ENST00000545499.5:c.514-941T>C | ENSP00000437943.1:n.514-941T>C | |
| NM_001242925.1:c.514-941T>C | NP_001229854.1:n.514-941T>C | |
| NM_001297611.1:c.73-941T>C | NP_001284540.1:n.73-941T>C | |
| NM_001297613.1:c.28-941T>C | NP_001284542.1:n.28-941T>C | |
| NM_014858.3:c.748-941T>C | NP_055673.2:n.748-941T>C | |
| XM_005245684.1:c.514-941T>C | XP_005245741.1:n.514-941T>C | |
| XM_005245685.3:c.514-941T>C | XP_005245742.1:n.514-941T>C | |
| XM_005245686.2:c.748-941T>C | XP_005245743.1:n.748-941T>C | |
| XM_005245689.1:c.-9T>C | XP_005245746.1:n.-9T>C | |
| XM_006711694.1:c.514-941T>C | XP_006711757.1:n.514-941T>C | |
| NM_001331034.1:c.163-941T>C | NP_001317963.1:n.163-941T>C | |
| XM_005245684.2:c.514-941T>C | XP_005245741.1:n.514-941T>C | |
| XM_005245685.4:c.514-941T>C | XP_005245742.1:n.514-941T>C | |
| XM_005245686.3:c.748-941T>C | XP_005245743.1:n.748-941T>C | |
| NM_014858.4:c.748-941T>C MANE Select | NP_055673.2:n.748-941T>C | |
| NM_001375651.1:c.514-941T>C | NP_001362580.1:n.514-941T>C | |
| NM_001375652.1:c.514-941T>C | NP_001362581.1:n.514-941T>C | |
| NM_001242925.2:c.514-941T>C | NP_001229854.1:n.514-941T>C | |
| NM_001297611.2:c.73-941T>C | NP_001284540.1:n.73-941T>C | |
| NM_001297613.2:c.28-941T>C | NP_001284542.1:n.28-941T>C |