dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66068772 (EAS)
Genomes Max Group AF
0.65318735 (EAS)
Exomes Max Group AF
0.6572852 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.90413990C>T , CM000669.2:g.90413990C>T | GRCh38 |
| NC_000007.13:g.90043304C>T , CM000669.1:g.90043304C>T | GRCh37 |
| NC_000007.12:g.89881240C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496677.6:c.*579C>T MANE Select | ENSP00000419053.1:n.*579C>T | |
| ENST00000287916.8:c.*579C>T | ENSP00000287916.4:n.*579C>T | |
| ENST00000394605.2:c.*579C>T | ENSP00000378103.1:n.*579C>T | |
| ENST00000451941.6:n.32+8378C>T | ||
| ENST00000483862.5:n.121+8382C>T | ||
| ENST00000498033.5:n.156+8382C>T | ||
| NM_001185072.2:c.*579C>T | NP_001172001.1:n.*579C>T | |
| NM_001185073.2:c.*579C>T | NP_001172002.1:n.*579C>T | |
| NM_012129.4:c.*579C>T | NP_036261.1:n.*579C>T | |
| XR_927736.1:n.410+4457G>A | ||
| XR_002956513.1:n.723+4457G>A | ||
| NM_001185072.3:c.*579C>T MANE Select | NP_001172001.1:n.*579C>T | |
| NM_001185073.3:c.*579C>T | NP_001172002.1:n.*579C>T | |
| NM_012129.5:c.*579C>T | NP_036261.1:n.*579C>T |