gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107694402G>C , CM000669.2:g.107694402G>C | GRCh38 |
| NC_000007.13:g.107334847G>C , CM000669.1:g.107334847G>C | GRCh37 |
| NC_000007.12:g.107122083G>C | NCBI36 |
| NG_008489.1:g.38768G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1264-1G>C MANE Select | ENSP00000494017.1:n.1264-1G>C | |
| ENST00000265715.7:c.1264-1G>C | ENSP00000265715.3:n.1264-1G>C | |
| ENST00000460748.1:n.367-1G>C | ||
| ENST00000477350.5:n.189-219G>C | ||
| ENST00000480841.5:n.113-1G>C | ||
| ENST00000497446.5:n.279-1G>C | ||
| NM_000441.1:c.1264-1G>C | NP_000432.1:n.1264-1G>C | |
| XM_005250425.1:c.1264-1G>C | XP_005250482.1:n.1264-1G>C | |
| XM_005250425.2:c.1264-1G>C | XP_005250482.1:n.1264-1G>C | |
| XM_017012318.1:c.1264-219G>C | XP_016867807.1:n.1264-219G>C | |
| NM_000441.2:c.1264-1G>C MANE Select | NP_000432.1:n.1264-1G>C |