gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50863124 (AMR)
Genomes Max Group AF
0.48545641 (NFE)
Exomes Max Group AF
0.51717454 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27202872A>G , CM000671.2:g.27202872A>G | GRCh38 |
| NC_000009.11:g.27202870A>G , CM000671.1:g.27202870A>G | GRCh37 |
| NC_000009.10:g.27192870A>G | NCBI36 |
| NG_011828.1:g.98724A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380036.10:c.1962A>G MANE Select | ENSP00000369375.4:p.Ser654= | |
| ENST00000380036.8:c.1962A>G | ENSP00000369375.4:p.Ser654= | |
| ENST00000406359.8:c.1833A>G | ENSP00000383977.4:p.Ser611= | |
| ENST00000519080.1:c.1392A>G | ENSP00000428337.1:p.Ser464= | |
| ENST00000519097.5:c.1521A>G | ENSP00000430686.1:p.Ser507= | |
| ENST00000615002.4:c.*463A>G | ENSP00000480251.1:n.*463A>G | |
| NM_000459.4:c.1962A>G | NP_000450.2:p.Ser654= | |
| NM_001290077.1:c.1833A>G | NP_001277006.1:p.Ser611= | |
| NM_001290078.1:c.1521A>G | NP_001277007.1:p.Ser507= | |
| XM_005251561.1:c.1962A>G | XP_005251618.1:p.Ser654= | |
| XM_005251563.1:c.1833A>G | XP_005251620.1:p.Ser611= | |
| XM_005251561.2:c.1962A>G | XP_005251618.1:p.Ser654= | |
| XM_005251563.2:c.1833A>G | XP_005251620.1:p.Ser611= | |
| NM_000459.5:c.1962A>G MANE Select | NP_000450.3:p.Ser654= | |
| NM_001375475.1:c.1962A>G | NP_001362404.1:p.Ser654= | |
| NM_001375476.1:c.1833A>G | NP_001362405.1:p.Ser611= |