gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49151493 (NFE)
Genomes Max Group AF
0.49151493 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.28156794G>A , CM000669.2:g.28156794G>A | GRCh38 |
| NC_000007.13:g.28196413G>A , CM000669.1:g.28196413G>A | GRCh37 |
| NC_000007.12:g.28162938G>A | NCBI36 |
| NG_011499.1:g.29025C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283928.10:c.115+23669C>T MANE Select | ENSP00000283928.5:n.115+23669C>T | |
| ENST00000649905.1:c.115+23669C>T | ENSP00000497321.1:n.115+23669C>T | |
| ENST00000283928.9:c.115+23669C>T | ENSP00000283928.5:n.115+23669C>T | |
| ENST00000452993.5:c.115+23669C>T | ENSP00000415984.1:n.115+23669C>T | |
| ENST00000454041.1:c.115+23669C>T | ENSP00000399083.1:n.115+23669C>T | |
| NM_175061.3:c.115+23669C>T | NP_778231.2:n.115+23669C>T | |
| XM_006715656.1:c.-140+23669C>T | XP_006715719.1:n.-140+23669C>T | |
| XR_926924.1:n.230+23669C>T | ||
| NM_175061.4:c.115+23669C>T MANE Select | NP_778231.2:n.115+23669C>T |