gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00217093 (NFE)
Genomes Max Group AF
0.00208242 (NFE)
Exomes Max Group AF
0.00215989 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43877589C>T , CM000664.2:g.43877589C>T | GRCh38 |
| NC_000002.11:g.44104728C>T , CM000664.1:g.44104728C>T | GRCh37 |
| NC_000002.10:g.43958232C>T | NCBI36 |
| NG_008884.1:g.43626C>T | |
| NG_008884.2:g.50648C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1785C>T MANE Select | ENSP00000272286.2:p.Phe595= | |
| ENST00000272286.2:c.1785C>T | ENSP00000272286.2:p.Phe595= | |
| NM_022437.2:c.1785C>T | NP_071882.1:p.Phe595= | |
| XM_005264483.2:c.1782C>T | XP_005264540.1:p.Phe594= | |
| XM_011533029.1:c.1797C>T | XP_011531331.1:p.Phe599= | |
| XM_011533030.1:c.1794C>T | XP_011531332.1:p.Phe598= | |
| XM_011533031.1:c.1569C>T | XP_011531333.1:p.Phe523= | |
| XR_939707.1:n.2287C>T | ||
| NM_001357321.1:c.1782C>T | NP_001344250.1:p.Phe594= | |
| XM_011533029.2:c.1797C>T | XP_011531331.1:p.Phe599= | |
| XM_011533030.2:c.1794C>T | XP_011531332.1:p.Phe598= | |
| XR_001738891.1:n.2301C>T | ||
| XR_939707.2:n.2301C>T | ||
| NM_022437.3:c.1785C>T MANE Select | NP_071882.1:p.Phe595= | |
| NM_001357321.2:c.1782C>T | NP_001344250.1:p.Phe594= |