gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001454 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00001213 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43851592A>C , CM000664.2:g.43851592A>C | GRCh38 |
| NC_000002.11:g.44078731A>C , CM000664.1:g.44078731A>C | GRCh37 |
| NC_000002.10:g.43932235A>C | NCBI36 |
| NG_008884.1:g.17629A>C | |
| NG_008884.2:g.24651A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.331A>C MANE Select | ENSP00000272286.2:p.Arg111= | |
| ENST00000644611.1:c.343A>C | ENSP00000495423.1:p.Arg115= | |
| ENST00000272286.2:c.331A>C | ENSP00000272286.2:p.Arg111= | |
| NM_022437.2:c.331A>C | NP_071882.1:p.Arg111= | |
| XM_005264483.2:c.331A>C | XP_005264540.1:p.Arg111= | |
| XM_011533029.1:c.343A>C | XP_011531331.1:p.Arg115= | |
| XM_011533030.1:c.343A>C | XP_011531332.1:p.Arg115= | |
| XM_011533031.1:c.115A>C | XP_011531333.1:p.Arg39= | |
| XR_939707.1:n.833A>C | ||
| NM_001357321.1:c.331A>C | NP_001344250.1:p.Arg111= | |
| XM_011533029.2:c.343A>C | XP_011531331.1:p.Arg115= | |
| XM_011533030.2:c.343A>C | XP_011531332.1:p.Arg115= | |
| XR_001738891.1:n.847A>C | ||
| XR_939707.2:n.847A>C | ||
| NM_022437.3:c.331A>C MANE Select | NP_071882.1:p.Arg111= | |
| NM_001357321.2:c.331A>C | NP_001344250.1:p.Arg111= |