ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00498688 (MID)
Genomes Max Group AF
0.00241086 (SAS)
Exomes Max Group AF
0.00510437 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.842051G>A , CM000671.2:g.842051G>A | GRCh38 |
| NC_000009.11:g.842051G>A , CM000671.1:g.842051G>A | GRCh37 |
| NC_000009.10:g.832051G>A | NCBI36 |
| NG_009221.1:g.5362G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382276.8:c.213G>A MANE Select | ENSP00000371711.3:p.Pro71= | |
| ENST00000382276.7:c.213G>A | ENSP00000371711.3:p.Pro71= | |
| ENST00000564322.1:n.362G>A | ||
| NM_021951.2:c.213G>A | NP_068770.2:p.Pro71= | |
| XM_006716732.1:c.213G>A | XP_006716795.1:p.Pro71= | |
| XM_017014375.1:c.213G>A | XP_016869864.1:p.Pro71= | |
| NM_021951.3:c.213G>A MANE Select | NP_068770.2:p.Pro71= |