gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0002964 (SAS)
Genomes Max Group AF
0.0008248 (SAS)
Exomes Max Group AF
0.00022886 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090625G>A , CM000681.2:g.4090625G>A | GRCh38 |
| NC_000019.9:g.4090623G>A , CM000681.1:g.4090623G>A | GRCh37 |
| NC_000019.8:g.4041623G>A | NCBI36 |
| NG_007996.1:g.38504C>T , LRG_750:g.38504C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1615C>T | ||
| ENST00000688002.1:n.3327C>T | ||
| ENST00000688751.1:n.312C>T | ||
| ENST00000689792.1:n.1080C>T | ||
| ENST00000262948.10:c.1176C>T MANE Select | ENSP00000262948.4:p.Pro392= | |
| ENST00000262948.9:c.1176C>T | ENSP00000262948.3:p.Pro392= | |
| ENST00000394867.8:c.885C>T | ENSP00000378336.1:p.Pro295= | |
| ENST00000597263.5:n.361C>T | ||
| ENST00000599021.1:c.286C>T | ||
| ENST00000600584.5:n.2625C>T | ||
| ENST00000601786.5:n.1477C>T | ||
| NM_030662.3:c.1176C>T , LRG_750t1:c.1176C>T | NP_109587.1:p.Pro392= | |
| XM_006722799.2:c.897C>T | XP_006722862.1:p.Pro299= | |
| XM_011528133.1:c.606C>T | XP_011526435.1:p.Pro202= | |
| NM_030662.4:c.1176C>T MANE Select | NP_109587.1:p.Pro392= |