gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11721627 (NFE)
Genomes Max Group AF
0.12058037 (NFE)
Exomes Max Group AF
0.1154963 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.113940851A>C , CM000668.2:g.113940851A>C | GRCh38 |
| NC_000006.11:g.114262015A>C , CM000668.1:g.114262015A>C | GRCh37 |
| NC_000006.10:g.114368708A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519065.6:c.*207T>G MANE Select | ENSP00000430432.1:n.*207T>G | |
| ENST00000368632.6:c.*207T>G | ENSP00000357621.2:n.*207T>G | |
| ENST00000519065.5:c.*207T>G | ENSP00000430432.1:n.*207T>G | |
| ENST00000519108.5:c.*207T>G | ENSP00000430008.1:n.*207T>G | |
| ENST00000523334.1:n.4677T>G | ||
| NM_001527.3:c.*207T>G | NP_001518.3:n.*207T>G | |
| NR_033441.1:n.1989T>G | ||
| NR_073443.1:n.1867T>G | ||
| XM_011535786.1:c.1436+857T>G | XP_011534088.1:n.1436+857T>G | |
| XM_011535787.1:c.1346+857T>G | XP_011534089.1:n.1346+857T>G | |
| XM_011535788.1:c.*207T>G | XP_011534090.1:n.*207T>G | |
| XM_017010799.1:c.*207T>G | XP_016866288.1:n.*207T>G | |
| NM_001527.4:c.*207T>G MANE Select | NP_001518.3:n.*207T>G | |
| NR_033441.2:n.1942T>G | ||
| NR_073443.2:n.1872T>G |