gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01313169 (MID)
Genomes Max Group AF
0.0049265 (NFE)
Exomes Max Group AF
0.01332598 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.13785251G>C , CM000682.2:g.13785251G>C | GRCh38 |
| NC_000020.10:g.13765897G>C , CM000682.1:g.13765897G>C | GRCh37 |
| NC_000020.9:g.13713897G>C | NCBI36 |
| NG_015811.1:g.5226G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378106.10:c.183G>C MANE Select | ENSP00000367346.5:p.Arg61= | |
| ENST00000378081.9:c.183G>C | ENSP00000437325.1:p.Arg61= | |
| ENST00000378106.9:c.183G>C | ENSP00000367346.5:p.Arg61= | |
| ENST00000463598.1:c.183G>C | ENSP00000420497.1:p.Arg61= | |
| ENST00000475968.5:n.164G>C | ||
| ENST00000477732.5:n.166G>C | ||
| ENST00000481249.5:n.164G>C | ||
| ENST00000485738.5:n.182G>C | ||
| NM_001039375.2:c.183G>C | NP_001034464.1:p.Arg61= | |
| NM_024120.4:c.183G>C | NP_077025.2:p.Arg61= | |
| NR_029377.1:n.226G>C | ||
| XM_006723620.2:c.183G>C | XP_006723683.1:p.Arg61= | |
| XM_006723622.2:c.-185G>C | XP_006723685.1:n.-185G>C | |
| XM_006723623.1:c.-339G>C | XP_006723686.1:n.-339G>C | |
| XM_006723624.1:c.-319G>C | XP_006723687.1:n.-319G>C | |
| XM_011529341.1:c.183G>C | XP_011527643.1:p.Arg61= | |
| XM_011529342.1:c.183G>C | XP_011527644.1:p.Arg61= | |
| XM_011529343.1:c.183G>C | XP_011527645.1:p.Arg61= | |
| XR_430269.2:n.203G>C | ||
| XR_937140.1:n.203G>C | ||
| NM_001352403.1:c.-185G>C | NP_001339332.1:n.-185G>C | |
| NM_001352406.1:c.-399G>C | NP_001339335.1:n.-399G>C | |
| NM_001352407.1:c.-513G>C | NP_001339336.1:n.-513G>C | |
| NM_001352408.1:c.183G>C | NP_001339337.1:p.Arg61= | |
| NR_147978.1:n.226G>C | ||
| NR_147979.1:n.226G>C | ||
| NR_147980.1:n.226G>C | ||
| NR_147981.1:n.226G>C | ||
| NR_147982.1:n.226G>C | ||
| NR_147983.1:n.226G>C | ||
| XM_006723624.2:c.-319G>C | XP_006723687.1:n.-319G>C | |
| XM_011529342.2:c.183G>C | XP_011527644.1:p.Arg61= | |
| XR_001754396.1:n.226G>C | ||
| XR_430269.3:n.203G>C | ||
| XR_937140.2:n.203G>C | ||
| NM_024120.5:c.183G>C MANE Select | NP_077025.2:p.Arg61= | |
| NM_001039375.3:c.183G>C | NP_001034464.1:p.Arg61= | |
| NM_001352403.2:c.-185G>C | NP_001339332.1:n.-185G>C | |
| NM_001352406.2:c.-399G>C | NP_001339335.1:n.-399G>C | |
| NM_001352407.2:c.-513G>C | NP_001339336.1:n.-513G>C | |
| NR_029377.2:n.224G>C | ||
| NR_147978.2:n.224G>C | ||
| NR_147979.2:n.224G>C | ||
| NR_147980.2:n.224G>C | ||
| NR_147981.2:n.224G>C | ||
| NR_147982.2:n.224G>C | ||
| NR_147983.2:n.224G>C | ||
| NM_001352408.2:c.183G>C | NP_001339337.1:p.Arg61= |