gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.75302118 (NFE)
Genomes Max Group AF
0.75302118 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.56785262C>T , CM000685.2:g.56785262C>T | GRCh38 |
| NC_000023.10:g.56811695C>T , CM000685.1:g.56811695C>T | GRCh37 |
| NC_000023.9:g.56828420C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374922.9:c.*167-32058C>T MANE Select | ENSP00000489583.1:n.*167-32058C>T | |
| ENST00000637096.1:c.*167-25758C>T | ENSP00000490217.1:n.*167-25758C>T | |
| ENST00000374922.8:c.*167-32058C>T | ENSP00000489583.1:n.*167-32058C>T | |
| ENST00000423617.2:c.237-32058C>T | ENSP00000489486.1:n.237-32058C>T | |
| ENST00000451583.1:c.249-32058C>T | ||
| NR_015367.2:n.443-32058C>T | ||
| NM_001348129.1:c.*167-32058C>T | NP_001335058.1:n.*167-32058C>T | |
| NM_001348129.2:c.*167-32058C>T MANE Select | NP_001335058.1:n.*167-32058C>T |