gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007827 (NFE)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00008218 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35860992T>G , CM000667.2:g.35860992T>G | GRCh38 |
| NC_000005.9:g.35861094T>G , CM000667.1:g.35861094T>G | GRCh37 |
| NC_000005.8:g.35896851T>G | NCBI36 |
| NG_009567.1:g.9104T>G , LRG_74:g.9104T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303115.8:c.221+2T>G MANE Select | ENSP00000306157.3:n.221+2T>G | |
| ENST00000303115.7:c.221+2T>G | ENSP00000306157.3:n.221+2T>G | |
| ENST00000506850.5:c.221+2T>G | ENSP00000421207.1:n.221+2T>G | |
| ENST00000511031.1:n.355+2T>G | ||
| ENST00000511982.1:c.221+2T>G | ENSP00000425309.1:n.221+2T>G | |
| ENST00000514217.5:c.221+2T>G | ENSP00000427688.1:n.221+2T>G | |
| NM_002185.3:c.221+2T>G | NP_002176.2:n.221+2T>G | |
| NR_120485.1:n.324+2T>G | ||
| XM_005248299.2:c.221+2T>G | XP_005248356.1:n.221+2T>G | |
| XM_005248300.1:c.221+2T>G | XP_005248357.1:n.221+2T>G | |
| XM_011514037.1:c.221+2T>G | XP_011512339.1:n.221+2T>G | |
| NM_002185.4:c.221+2T>G | NP_002176.2:n.221+2T>G | |
| NR_120485.2:n.350+2T>G | ||
| XM_005248299.4:c.221+2T>G | XP_005248356.1:n.221+2T>G | |
| NM_002185.5:c.221+2T>G MANE Select | NP_002176.2:n.221+2T>G | |
| NR_120485.3:n.308+2T>G |