gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001144 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001093 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19936376A>C , CM000664.2:g.19936376A>C | GRCh38 |
| NC_000002.11:g.20136137A>C , CM000664.1:g.20136137A>C | GRCh37 |
| NC_000002.10:g.19999618A>C | NCBI36 |
| NG_021212.1:g.58748T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.2268-11T>G MANE Select | ENSP00000281405.5:n.2268-11T>G | |
| ENST00000345530.8:c.2301-11T>G MANE Plus Clinical | ENSP00000314444.5:n.2301-11T>G | |
| ENST00000281405.8:c.2268-11T>G | ENSP00000281405.4:n.2268-11T>G | |
| ENST00000345530.7:c.2301-11T>G | ENSP00000314444.5:n.2301-11T>G | |
| ENST00000414212.5:c.2301-11T>G | ENSP00000390802.1:n.2301-11T>G | |
| ENST00000445063.5:c.1744-11T>G | ||
| ENST00000453014.1:c.906-11T>G | ENSP00000404409.1:n.906-11T>G | |
| NM_001006657.1:c.2301-11T>G | NP_001006658.1:n.2301-11T>G | |
| NM_020779.3:c.2268-11T>G | NP_065830.2:n.2268-11T>G | |
| XM_011533007.1:c.996-11T>G | XP_011531309.1:n.996-11T>G | |
| XR_426989.2:n.2301-11T>G | ||
| XM_011533007.2:c.996-11T>G | XP_011531309.1:n.996-11T>G | |
| XR_001738862.1:n.2245-11T>G | ||
| XR_426989.3:n.2301-11T>G | ||
| NM_001006657.2:c.2301-11T>G MANE Plus Clinical | NP_001006658.1:n.2301-11T>G | |
| NM_020779.4:c.2268-11T>G MANE Select | NP_065830.2:n.2268-11T>G |