gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00270138 (AFR)
Genomes Max Group AF
0.00273491 (AFR)
Exomes Max Group AF
0.00237547 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25808771G>A , CM000663.2:g.25808771G>A | GRCh38 |
| NC_000001.10:g.26135262G>A , CM000663.1:g.26135262G>A | GRCh37 |
| NC_000001.9:g.26007849G>A | NCBI36 |
| NG_009930.1:g.13596G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354177.9:c.627G>A | ENSP00000346109.5:p.Pro209= | |
| ENST00000494537.2:c.627G>A | ENSP00000508308.1:p.Pro209= | |
| ENST00000361547.7:c.729G>A MANE Select | ENSP00000355141.2:p.Pro243= | |
| ENST00000354177.8:c.627G>A | ENSP00000346109.4:p.Pro209= | |
| ENST00000361547.6:c.729G>A | ENSP00000355141.2:p.Pro243= | |
| ENST00000374315.1:c.627G>A | ENSP00000363434.1:p.Pro209= | |
| NM_020451.2:c.729G>A | NP_065184.2:p.Pro243= | |
| NM_206926.1:c.627G>A | NP_996809.1:p.Pro209= | |
| NM_020451.3:c.729G>A MANE Select | NP_065184.2:p.Pro243= | |
| NM_206926.2:c.627G>A | NP_996809.1:p.Pro209= |