gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29603363 (EAS)
Genomes Max Group AF
0.29542188 (EAS)
Exomes Max Group AF
0.29461898 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109488566T>G , CM000663.2:g.109488566T>G | GRCh38 |
| NC_000001.10:g.110031188T>G , CM000663.1:g.110031188T>G | GRCh37 |
| NC_000001.9:g.109832711T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000459635.2:c.879+101T>G | ENSP00000507211.1:n.879+101T>G | |
| ENST00000604728.6:c.879+101T>G | ENSP00000507693.1:n.879+101T>G | |
| ENST00000683729.1:c.879+101T>G MANE Select | ENSP00000507259.1:n.879+101T>G | |
| ENST00000684449.1:c.1061+101T>G | ENSP00000506870.1:n.1061+101T>G | |
| ENST00000684472.1:c.1247+101T>G | ENSP00000507971.1:n.1247+101T>G | |
| ENST00000369870.7:c.783+101T>G | ENSP00000358886.3:n.783+101T>G | |
| ENST00000463678.5:c.*745+101T>G | ENSP00000474312.1:n.*745+101T>G | |
| ENST00000497545.5:n.1646+101T>G | ||
| ENST00000615509.2:c.783+101T>G | ENSP00000484134.1:n.783+101T>G | |
| NM_153340.4:c.783+101T>G | NP_699171.3:n.783+101T>G | |
| XM_005270445.2:c.879+101T>G | XP_005270502.1:n.879+101T>G | |
| XM_005270446.1:c.879+101T>G | XP_005270503.1:n.879+101T>G | |
| XM_011540638.1:c.813+101T>G | XP_011538940.1:n.813+101T>G | |
| XM_011540639.1:c.705+101T>G | XP_011538941.1:n.705+101T>G | |
| XM_011540640.1:c.705+101T>G | XP_011538942.1:n.705+101T>G | |
| XM_011540641.1:c.705+101T>G | XP_011538943.1:n.705+101T>G | |
| XM_011540642.1:c.705+101T>G | XP_011538944.1:n.705+101T>G | |
| XM_011540643.1:c.705+101T>G | XP_011538945.1:n.705+101T>G | |
| XM_011540644.1:c.705+101T>G | XP_011538946.1:n.705+101T>G | |
| XM_011540645.1:c.235-281T>G | XP_011538947.1:n.235-281T>G | |
| XM_011540646.1:c.879+101T>G | XP_011538948.1:n.879+101T>G | |
| NM_001350174.1:c.879+101T>G | NP_001337103.1:n.879+101T>G | |
| NM_001350175.1:c.879+101T>G | NP_001337104.1:n.879+101T>G | |
| NM_001350177.1:c.705+101T>G | NP_001337106.1:n.705+101T>G | |
| NM_153340.5:c.783+101T>G | NP_699171.3:n.783+101T>G | |
| XM_011540638.2:c.813+101T>G | XP_011538940.1:n.813+101T>G | |
| XM_011540639.3:c.705+101T>G | XP_011538941.1:n.705+101T>G | |
| XM_011540641.2:c.705+101T>G | XP_011538943.1:n.705+101T>G | |
| XM_011540644.2:c.705+101T>G | XP_011538946.1:n.705+101T>G | |
| XM_011540646.2:c.879+101T>G | XP_011538948.1:n.879+101T>G | |
| XM_017000267.2:c.705+101T>G | XP_016855756.1:n.705+101T>G | |
| XM_017000268.1:c.705+101T>G | XP_016855757.1:n.705+101T>G | |
| XM_017000269.1:c.705+101T>G | XP_016855758.1:n.705+101T>G | |
| NM_001350177.2:c.705+101T>G | NP_001337106.1:n.705+101T>G | |
| NM_001350175.2:c.879+101T>G MANE Select | NP_001337104.1:n.879+101T>G |