gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25619466 (MID)
Genomes Max Group AF
0.25404497 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.58571651T>C , CM000673.2:g.58571651T>C | GRCh38 |
| NC_000011.9:g.58339124T>C , CM000673.1:g.58339124T>C | GRCh37 |
| NC_000011.8:g.58095700T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395074.7:c.14-938A>G MANE Select | ENSP00000378512.2:n.14-938A>G | |
| ENST00000395074.6:c.14-938A>G | ENSP00000378512.2:n.14-938A>G | |
| ENST00000528489.1:c.1-938A>G | ENSP00000461855.1:n.1-938A>G | |
| ENST00000528954.5:c.29-938A>G | ENSP00000431284.1:n.29-938A>G | |
| ENST00000529915.1:n.125-938A>G | ||
| ENST00000530561.5:c.14-938A>G | ENSP00000437094.1:n.14-938A>G | |
| NM_001143995.1:c.29-938A>G | NP_001137467.1:n.29-938A>G | |
| NM_001143995.2:c.29-938A>G | NP_001137467.1:n.29-938A>G | |
| NM_001307951.1:c.1-938A>G | NP_001294880.1:n.1-938A>G | |
| NM_004811.2:c.14-938A>G | NP_004802.1:n.14-938A>G | |
| XM_006718750.1:c.-275-938A>G | XP_006718813.1:n.-275-938A>G | |
| XM_011545388.1:c.1-938A>G | XP_011543690.1:n.1-938A>G | |
| XM_011545390.1:c.1-938A>G | XP_011543692.1:n.1-938A>G | |
| XM_011545391.1:c.1-938A>G | XP_011543693.1:n.1-938A>G | |
| XM_011545392.1:c.1-938A>G | XP_011543694.1:n.1-938A>G | |
| XM_011545393.1:c.29-938A>G | XP_011543695.1:n.29-938A>G | |
| XM_011545394.1:c.14-938A>G | XP_011543696.1:n.14-938A>G | |
| XM_011545388.3:c.1-938A>G | XP_011543690.1:n.1-938A>G | |
| XM_011545390.2:c.1-938A>G | XP_011543692.1:n.1-938A>G | |
| XM_011545391.3:c.1-938A>G | XP_011543693.1:n.1-938A>G | |
| XM_011545393.3:c.29-938A>G | XP_011543695.1:n.29-938A>G | |
| XM_011545394.3:c.14-938A>G | XP_011543696.1:n.14-938A>G | |
| XM_017018579.2:c.29-938A>G | XP_016874068.1:n.29-938A>G | |
| NM_001143995.3:c.29-938A>G | NP_001137467.1:n.29-938A>G | |
| NM_001307951.2:c.1-938A>G | NP_001294880.1:n.1-938A>G | |
| NM_004811.3:c.14-938A>G MANE Select | NP_004802.1:n.14-938A>G |