gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07345783 (NFE)
Genomes Max Group AF
0.07345783 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.154801156T>G , CM000669.2:g.154801156T>G | GRCh38 |
| NC_000007.13:g.154592866T>G , CM000669.1:g.154592866T>G | GRCh37 |
| NC_000007.12:g.154223799T>G | NCBI36 |
| NG_033878.1:g.918823T>G | |
| NG_033878.2:g.1058171T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706130.1:c.1117-199T>G | ENSP00000516215.1:n.1117-199T>G | |
| ENST00000706151.1:c.325-199T>G | ENSP00000516234.1:n.325-199T>G | |
| ENST00000706153.1:n.946-199T>G | ||
| ENST00000706154.1:n.584-199T>G | ||
| ENST00000706155.1:n.731-199T>G | ||
| ENST00000377770.8:c.1300-199T>G MANE Select | ENSP00000367001.3:n.1300-199T>G | |
| ENST00000332007.7:c.1114-199T>G | ENSP00000328226.3:n.1114-199T>G | |
| ENST00000377770.7:c.1300-199T>G | ENSP00000367001.3:n.1300-199T>G | |
| ENST00000404039.5:c.1108-199T>G | ENSP00000385578.1:n.1108-199T>G | |
| ENST00000427557.1:c.979-199T>G | ENSP00000397303.1:n.979-199T>G | |
| ENST00000471100.5:n.446-199T>G | ||
| NM_001039350.2:c.1108-199T>G | NP_001034439.1:n.1108-199T>G | |
| NM_001290252.1:c.979-199T>G | NP_001277181.1:n.979-199T>G | |
| NM_001936.4:c.1114-199T>G | NP_001927.3:n.1114-199T>G | |
| NM_130797.3:c.1300-199T>G | NP_570629.2:n.1300-199T>G | |
| XM_011515865.1:c.1108-199T>G | XP_011514167.1:n.1108-199T>G | |
| XM_011515866.1:c.676-199T>G | XP_011514168.1:n.676-199T>G | |
| NM_001364497.1:c.1117-199T>G | NP_001351426.1:n.1117-199T>G | |
| NM_001364498.1:c.1117-199T>G | NP_001351427.1:n.1117-199T>G | |
| NM_001364499.1:c.1117-199T>G | NP_001351428.1:n.1117-199T>G | |
| NM_001364500.1:c.1117-199T>G | NP_001351429.1:n.1117-199T>G | |
| NR_157195.1:n.1750-199T>G | ||
| NR_157196.1:n.1450-199T>G | ||
| XM_017011812.2:c.676-199T>G | XP_016867301.1:n.676-199T>G | |
| NM_130797.4:c.1300-199T>G MANE Select | NP_570629.2:n.1300-199T>G | |
| NM_001039350.3:c.1108-199T>G | NP_001034439.1:n.1108-199T>G | |
| NM_001290252.2:c.979-199T>G | NP_001277181.1:n.979-199T>G | |
| NM_001364497.2:c.1117-199T>G | NP_001351426.1:n.1117-199T>G | |
| NM_001364498.2:c.1117-199T>G | NP_001351427.1:n.1117-199T>G | |
| NM_001364499.2:c.1117-199T>G | NP_001351428.1:n.1117-199T>G | |
| NM_001364500.2:c.1117-199T>G | NP_001351429.1:n.1117-199T>G | |
| NM_001936.5:c.1114-199T>G | NP_001927.3:n.1114-199T>G | |
| NR_157196.2:n.1450-199T>G | ||
| NR_157195.2:n.1750-199T>G |