MutSpliceDB:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000553 (AMR)
Exomes Max Group AF
0.00000741 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49866453T>C , CM000681.2:g.49866453T>C | GRCh38 |
| NC_000019.9:g.50369710T>C , CM000681.1:g.50369710T>C | GRCh37 |
| NC_000019.8:g.55061522T>C | NCBI36 |
| NG_027717.1:g.6113A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.152-8A>G MANE Select | ENSP00000323511.2:n.152-8A>G | |
| ENST00000636214.1:c.152-8A>G | ENSP00000489983.1:n.152-8A>G | |
| ENST00000637897.1:c.92-8A>G | ENSP00000490539.1:n.92-8A>G | |
| ENST00000322344.7:c.152-8A>G | ENSP00000323511.2:n.152-8A>G | |
| ENST00000593946.5:c.*71A>G | ENSP00000468896.1:n.*71A>G | |
| ENST00000594661.5:n.558A>G | ||
| ENST00000595792.1:n.333A>G | ||
| ENST00000596014.5:c.152-8A>G | ENSP00000472300.1:n.152-8A>G | |
| ENST00000596726.3:c.152-8A>G | ENSP00000470887.2:n.152-8A>G | |
| ENST00000598020.3:c.*71A>G | ENSP00000470346.1:n.*71A>G | |
| ENST00000599543.3:c.152-8A>G | ENSP00000469848.2:n.152-8A>G | |
| ENST00000600573.5:c.152-8A>G | ENSP00000469826.1:n.152-8A>G | |
| ENST00000600910.5:c.152-8A>G | ENSP00000473137.1:n.152-8A>G | |
| ENST00000626274.2:n.261-8A>G | ||
| ENST00000627232.2:c.152-8A>G | ENSP00000486037.1:n.152-8A>G | |
| ENST00000629088.1:n.206-8A>G | ||
| ENST00000629179.1:n.183-2050A>G | ||
| ENST00000631020.2:c.152-8A>G | ENSP00000486707.1:n.152-8A>G | |
| NM_007254.3:c.152-8A>G | NP_009185.2:n.152-8A>G | |
| NM_007254.4:c.152-8A>G MANE Select | NP_009185.2:n.152-8A>G |