gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70022837 (NFE)
Genomes Max Group AF
0.70022837 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.60464852A>G , CM000673.2:g.60464852A>G | GRCh38 |
| NC_000011.9:g.60232325A>G , CM000673.1:g.60232325A>G | GRCh37 |
| NC_000011.8:g.59988901A>G | NCBI36 |
| NG_023388.1:g.14044A>G , LRG_140:g.14044A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345732.9:c.336+508A>G MANE Select | ENSP00000314620.7:n.336+508A>G | |
| ENST00000533306.6:c.288+508A>G | ENSP00000437002.2:n.288+508A>G | |
| ENST00000534668.6:c.336+508A>G | ENSP00000433277.1:n.336+508A>G | |
| ENST00000674194.1:c.336+508A>G | ENSP00000501369.1:n.336+508A>G | |
| ENST00000345732.8:c.336+508A>G | ENSP00000314620.7:n.336+508A>G | |
| ENST00000389939.2:c.336+508A>G | ENSP00000374589.2:n.336+508A>G | |
| ENST00000528313.1:c.112-2146A>G | ENSP00000432270.1:n.112-2146A>G | |
| ENST00000532073.5:c.336+508A>G | ENSP00000433519.1:n.336+508A>G | |
| ENST00000533306.5:c.345+508A>G | ENSP00000437002.1:n.345+508A>G | |
| ENST00000534668.5:c.336+508A>G | ENSP00000433277.1:n.336+508A>G | |
| NM_021950.3:c.336+508A>G | NP_068769.2:n.336+508A>G | |
| NM_152866.2:c.336+508A>G , LRG_140t1:c.336+508A>G | NP_690605.1:n.336+508A>G | |
| NM_152866.3:c.336+508A>G MANE Select | NP_690605.1:n.336+508A>G | |
| NM_152867.2:c.336+508A>G | NP_690606.1:n.336+508A>G | |
| NM_021950.4:c.336+508A>G | NP_068769.2:n.336+508A>G |