ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.000032 (EAS)
Exomes Max Group AF
0.00002139 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232481123C>T , CM000664.2:g.232481123C>T | GRCh38 |
| NC_000002.11:g.233345833C>T , CM000664.1:g.233345833C>T | GRCh37 |
| NC_000002.10:g.233054077C>T | NCBI36 |
| NG_034065.1:g.11737G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304546.6:c.2023G>A MANE Select | ENSP00000302051.1:p.Ala675Thr | |
| ENST00000304546.5:c.2023G>A | ENSP00000302051.1:p.Ala675Thr | |
| ENST00000409941.1:c.2017G>A | ENSP00000386333.1:p.Ala673Thr | |
| ENST00000411860.5:c.235-310G>A | ENSP00000412683.1:n.235-310G>A | |
| ENST00000482346.1:n.2334G>A | ||
| NM_001290787.1:c.2017G>A | NP_001277716.1:p.Ala673Thr | |
| NM_004826.3:c.2023G>A | NP_004817.2:p.Ala675Thr | |
| NM_004826.4:c.2023G>A MANE Select | NP_004817.2:p.Ala675Thr | |
| NM_001290787.2:c.2017G>A | NP_001277716.1:p.Ala673Thr |