gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25651308 (NFE)
Genomes Max Group AF
0.25651308 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.126145997T>C , CM000672.2:g.126145997T>C | GRCh38 |
| NC_000010.10:g.127834566T>C , CM000672.1:g.127834566T>C | GRCh37 |
| NC_000010.9:g.127824556T>C | NCBI36 |
| NG_029050.1:g.247562A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448723.2:c.339+9230A>G MANE Select | ENSP00000391268.2:n.339+9230A>G | |
| ENST00000368676.8:c.348+9221A>G | ENSP00000357665.4:n.348+9221A>G | |
| ENST00000368679.8:c.348+9221A>G | ENSP00000357668.4:n.348+9221A>G | |
| ENST00000448723.1:c.339+9230A>G | ENSP00000391268.1:n.339+9230A>G | |
| ENST00000494661.1:n.79+9230A>G | ||
| NM_001288973.1:c.339+9230A>G | NP_001275902.1:n.339+9230A>G | |
| NM_001288974.1:c.339+9230A>G | NP_001275903.1:n.339+9230A>G | |
| NM_001288975.1:c.339+9230A>G | NP_001275904.1:n.339+9230A>G | |
| NM_003474.5:c.348+9221A>G | NP_003465.3:n.348+9221A>G | |
| NM_021641.4:c.348+9221A>G | NP_067673.2:n.348+9221A>G | |
| XM_017016705.1:c.-121+9230A>G | XP_016872194.1:n.-121+9230A>G | |
| NM_001288973.2:c.339+9230A>G MANE Select | NP_001275902.1:n.339+9230A>G | |
| NM_001288974.2:c.339+9230A>G | NP_001275903.1:n.339+9230A>G | |
| NM_001288975.2:c.339+9230A>G | NP_001275904.1:n.339+9230A>G | |
| NM_003474.6:c.348+9221A>G | NP_003465.3:n.348+9221A>G | |
| NM_021641.5:c.348+9221A>G | NP_067673.2:n.348+9221A>G |