gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28306709 (MID)
Genomes Max Group AF
0.22747436 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114787047G>A , CM000671.2:g.114787047G>A | GRCh38 |
| NC_000009.11:g.117549327G>A , CM000671.1:g.117549327G>A | GRCh37 |
| NC_000009.10:g.116589148G>A | NCBI36 |
| NG_011488.2:g.24082C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374045.5:c.*3405C>T MANE Select | ENSP00000363157.3:n.*3405C>T | |
| ENST00000374045.4:c.*3405C>T | ENSP00000363157.3:n.*3405C>T | |
| NM_001204344.1:c.3984C>T | NP_001191273.1:n.3984C>T | |
| NM_005118.3:c.*3405C>T | NP_005109.2:n.*3405C>T | |
| NM_005118.4:c.*3405C>T MANE Select | NP_005109.2:n.*3405C>T |