ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00112077 (AFR)
Genomes Max Group AF
0.00102189 (AFR)
Exomes Max Group AF
0.00105758 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197133506C>T , CM000663.2:g.197133506C>T | GRCh38 |
| NC_000001.10:g.197102636C>T , CM000663.1:g.197102636C>T | GRCh37 |
| NC_000001.9:g.195369259C>T | NCBI36 |
| NG_015867.1:g.18189G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367409.9:c.2263G>A MANE Select | ENSP00000356379.4:p.Ala755Thr | |
| ENST00000680112.1:n.319G>A | ||
| ENST00000680265.1:c.2263G>A | ENSP00000505384.1:p.Ala755Thr | |
| ENST00000680710.1:c.2263G>A | ENSP00000506676.1:p.Ala755Thr | |
| ENST00000681879.1:c.2263G>A | ENSP00000505363.1:p.Ala755Thr | |
| ENST00000294732.11:c.2263G>A | ENSP00000294732.7:p.Ala755Thr | |
| ENST00000367408.5:c.13G>A | ENSP00000356378.1:p.Ala5Thr | |
| ENST00000367409.8:c.2263G>A | ENSP00000356379.4:p.Ala755Thr | |
| ENST00000612785.1:c.561+10185G>A | ENSP00000479244.1:n.561+10185G>A | |
| NM_001206846.1:c.2263G>A | NP_001193775.1:p.Ala755Thr | |
| NM_018136.4:c.2263G>A | NP_060606.3:p.Ala755Thr | |
| NM_018136.5:c.2263G>A MANE Select | NP_060606.3:p.Ala755Thr | |
| NM_001206846.2:c.2263G>A | NP_001193775.1:p.Ala755Thr |