gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97637504 (EAS)
Genomes Max Group AF
0.97637504 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.176767979G>A , CM000666.2:g.176767979G>A | GRCh38 |
| NC_000004.11:g.177689133G>A , CM000666.1:g.177689133G>A | GRCh37 |
| NC_000004.10:g.177926127G>A | NCBI36 |
| NG_034216.1:g.29767C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000618562.2:c.147+24186C>T MANE Select | ENSP00000480043.1:n.147+24186C>T | |
| ENST00000618562.1:c.147+24186C>T | ENSP00000480043.1:n.147+24186C>T | |
| NM_005429.4:c.147+24186C>T | NP_005420.1:n.147+24186C>T | |
| NM_005429.5:c.147+24186C>T MANE Select | NP_005420.1:n.147+24186C>T |