gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001302 (NFE)
Exomes Max Group AF
0.00001366 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102866518C>T , CM000674.2:g.102866518C>T | GRCh38 |
| NC_000012.11:g.103260296C>T , CM000674.1:g.103260296C>T | GRCh37 |
| NC_000012.10:g.101784426C>T | NCBI36 |
| NG_008690.1:g.56085G>A | |
| NG_008690.2:g.96893G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.509+78G>A MANE Select | ENSP00000448059.1:n.509+78G>A | |
| ENST00000307000.7:c.494+78G>A | ENSP00000303500.2:n.494+78G>A | |
| ENST00000549111.5:n.605+78G>A | ||
| ENST00000551988.5:n.530+10944G>A | ||
| ENST00000553106.5:c.509+78G>A | ENSP00000448059.1:n.509+78G>A | |
| NM_000277.1:c.509+78G>A | NP_000268.1:n.509+78G>A | |
| XM_011538422.1:c.509+78G>A | XP_011536724.1:n.509+78G>A | |
| NM_000277.2:c.509+78G>A | NP_000268.1:n.509+78G>A | |
| NM_001354304.1:c.509+78G>A | NP_001341233.1:n.509+78G>A | |
| XM_017019370.2:c.509+78G>A | XP_016874859.1:n.509+78G>A | |
| NM_000277.3:c.509+78G>A MANE Select | NP_000268.1:n.509+78G>A | |
| NM_001354304.2:c.509+78G>A | NP_001341233.1:n.509+78G>A |