gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59018071 (NFE)
Genomes Max Group AF
0.59018071 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.29773698G>T , CM000675.2:g.29773698G>T | GRCh38 |
| NC_000013.10:g.30347835G>T , CM000675.1:g.30347835G>T | GRCh37 |
| NC_000013.9:g.29245835G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380680.5:c.137-1500C>A MANE Select | ENSP00000370055.4:n.137-1500C>A | |
| ENST00000380680.4:c.137-1500C>A | ENSP00000370055.4:n.137-1500C>A | |
| NM_007106.3:c.137-1500C>A | NP_009037.1:n.137-1500C>A | |
| XM_011535123.1:c.113-1500C>A | XP_011533425.1:n.113-1500C>A | |
| NM_007106.4:c.137-1500C>A MANE Select | NP_009037.1:n.137-1500C>A |