gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00033201 (SAS)
Genomes Max Group AF
0.00008874 (AMR)
Exomes Max Group AF
0.00033014 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102866526T>C , CM000674.2:g.102866526T>C | GRCh38 |
| NC_000012.11:g.103260304T>C , CM000674.1:g.103260304T>C | GRCh37 |
| NC_000012.10:g.101784434T>C | NCBI36 |
| NG_008690.1:g.56077A>G | |
| NG_008690.2:g.96885A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.509+70A>G MANE Select | ENSP00000448059.1:n.509+70A>G | |
| ENST00000307000.7:c.494+70A>G | ENSP00000303500.2:n.494+70A>G | |
| ENST00000549111.5:n.605+70A>G | ||
| ENST00000551988.5:n.530+10936A>G | ||
| ENST00000553106.5:c.509+70A>G | ENSP00000448059.1:n.509+70A>G | |
| NM_000277.1:c.509+70A>G | NP_000268.1:n.509+70A>G | |
| XM_011538422.1:c.509+70A>G | XP_011536724.1:n.509+70A>G | |
| NM_000277.2:c.509+70A>G | NP_000268.1:n.509+70A>G | |
| NM_001354304.1:c.509+70A>G | NP_001341233.1:n.509+70A>G | |
| XM_017019370.2:c.509+70A>G | XP_016874859.1:n.509+70A>G | |
| NM_000277.3:c.509+70A>G MANE Select | NP_000268.1:n.509+70A>G | |
| NM_001354304.2:c.509+70A>G | NP_001341233.1:n.509+70A>G |