gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43483744 (EAS)
Genomes Max Group AF
0.43483744 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21229685T>C , CM000674.2:g.21229685T>C | GRCh38 |
| NC_000012.11:g.21382619T>C , CM000674.1:g.21382619T>C | GRCh37 |
| NC_000012.10:g.21273886T>C | NCBI36 |
| NG_011745.1:g.103492T>C , LRG_1022:g.103492T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.1865+4846T>C MANE Select | ENSP00000256958.2:n.1865+4846T>C | |
| ENST00000256958.2:c.1865+4846T>C | ENSP00000256958.2:n.1865+4846T>C | |
| NM_006446.4:c.1865+4846T>C , LRG_1022t1:c.1865+4846T>C | NP_006437.3:n.1865+4846T>C | |
| NM_006446.5:c.1865+4846T>C MANE Select | NP_006437.3:n.1865+4846T>C |