ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197093100A>G , CM000663.2:g.197093100A>G | GRCh38 |
| NC_000001.10:g.197062230A>G , CM000663.1:g.197062230A>G | GRCh37 |
| NC_000001.9:g.195328853A>G | NCBI36 |
| NG_015867.1:g.58595T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2533T>C | ||
| ENST00000367409.9:c.9246T>C MANE Select | ENSP00000356379.4:p.Ser3082= | |
| ENST00000680265.1:c.9468T>C | ENSP00000505384.1:p.Ser3156= | |
| ENST00000680710.1:c.9246T>C | ENSP00000506676.1:p.Ser3082= | |
| ENST00000294732.11:c.4491T>C | ENSP00000294732.7:p.Ser1497= | |
| ENST00000367408.5:c.2241T>C | ENSP00000356378.1:p.Ser747= | |
| ENST00000367409.8:c.9246T>C | ENSP00000356379.4:p.Ser3082= | |
| ENST00000612785.1:c.3204T>C | ENSP00000479244.1:p.Ser1068= | |
| NM_001206846.1:c.4491T>C | NP_001193775.1:p.Ser1497= | |
| NM_018136.4:c.9246T>C | NP_060606.3:p.Ser3082= | |
| NM_018136.5:c.9246T>C MANE Select | NP_060606.3:p.Ser3082= | |
| NM_001206846.2:c.4491T>C | NP_001193775.1:p.Ser1497= |