gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00033381 (AFR)
Genomes Max Group AF
0.00037894 (AFR)
Exomes Max Group AF
0.00018359 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48437359T>G , CM000677.2:g.48437359T>G | GRCh38 |
| NC_000015.9:g.48729556T>G , CM000677.1:g.48729556T>G | GRCh37 |
| NC_000015.8:g.46516848T>G | NCBI36 |
| NG_008805.2:g.213430A>C , LRG_778:g.213430A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6342A>C | ENSP00000453958.2:p.Gly2114= | |
| ENST00000674301.2:c.6342A>C | ENSP00000501333.2:p.Gly2114= | |
| ENST00000316623.10:c.6342A>C MANE Select | ENSP00000325527.5:p.Gly2114= | |
| ENST00000674301.1:c.1341A>C | ENSP00000501333.1:p.Gly447= | |
| ENST00000316623.9:c.6342A>C | ENSP00000325527.5:p.Gly2114= | |
| ENST00000537463.6:c.*2105A>C | ENSP00000440294.2:n.*2105A>C | |
| ENST00000559133.5:c.1649A>C | ||
| NM_000138.4:c.6342A>C , LRG_778t1:c.6342A>C | NP_000129.3:p.Gly2114= | |
| NM_000138.5:c.6342A>C MANE Select | NP_000129.3:p.Gly2114= |