gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57582603A>G , CM000674.2:g.57582603A>G | GRCh38 |
| NC_000012.11:g.57976386A>G , CM000674.1:g.57976386A>G | GRCh37 |
| NC_000012.10:g.56262653A>G | NCBI36 |
| NG_008155.1:g.37540A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.2994A>G MANE Select | ENSP00000408979.2:p.Gly998= | |
| ENST00000674619.1:c.3015A>G | ENSP00000502270.1:p.Gly1005= | |
| ENST00000675201.1:n.2A>G | ||
| ENST00000675697.1:c.84-498A>G | ||
| ENST00000675737.1:n.1047A>G | ||
| ENST00000675866.1:c.2A>G | ||
| ENST00000675882.1:n.2517A>G | ||
| ENST00000675929.1:n.1552A>G | ||
| ENST00000676055.1:c.84-11A>G | ||
| ENST00000676265.1:n.2A>G | ||
| ENST00000676437.1:c.19A>G | ||
| ENST00000676457.1:c.2889A>G | ENSP00000501588.1:p.Gly963= | |
| ENST00000286452.5:c.2727A>G | ENSP00000286452.5:p.Gly909= | |
| ENST00000455537.6:c.2994A>G | ENSP00000408979.2:p.Gly998= | |
| ENST00000552227.1:n.277A>G | ||
| NM_004984.2:c.2994A>G | NP_004975.2:p.Gly998= | |
| NM_001354705.1:c.2727A>G | NP_001341634.1:p.Gly909= | |
| NM_004984.3:c.2994A>G | NP_004975.2:p.Gly998= | |
| XR_002957324.1:n.3227A>G | ||
| NM_004984.4:c.2994A>G MANE Select | NP_004975.2:p.Gly998= | |
| NM_001354705.2:c.2727A>G | NP_001341634.1:p.Gly909= |