ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01190523 (AFR)
Genomes Max Group AF
0.01167433 (AFR)
Exomes Max Group AF
0.01158484 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15239540G>A , CM000681.2:g.15239540G>A | GRCh38 |
| NC_000019.9:g.15350351G>A , CM000681.1:g.15350351G>A | GRCh37 |
| NC_000019.8:g.15211351G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679869.1:c.3446-18C>T MANE Select | ENSP00000506350.1:n.3446-18C>T | |
| ENST00000263377.6:c.3446-18C>T | ENSP00000263377.1:n.3446-18C>T | |
| NM_058243.2:c.3446-18C>T | NP_490597.1:n.3446-18C>T | |
| XM_011527854.1:c.3446-18C>T | XP_011526156.1:n.3446-18C>T | |
| XM_011527854.2:c.3446-18C>T | XP_011526156.1:n.3446-18C>T | |
| NM_001379291.1:c.3446-18C>T MANE Select | NP_001366220.1:n.3446-18C>T | |
| NM_058243.3:c.3446-18C>T | NP_490597.1:n.3446-18C>T |