ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3906383 (EAS)
Genomes Max Group AF
0.40067417 (EAS)
Exomes Max Group AF
0.38746359 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113412966C>A , CM000673.2:g.113412966C>A | GRCh38 |
| NC_000011.9:g.113283688C>A , CM000673.1:g.113283688C>A | GRCh37 |
| NC_000011.8:g.112788898C>A | NCBI36 |
| NG_008841.1:g.67314G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362072.8:c.811-83G>T MANE Select | ENSP00000354859.3:n.811-83G>T | |
| ENST00000346454.7:c.724-83G>T | ENSP00000278597.5:n.724-83G>T | |
| ENST00000362072.7:c.811-83G>T | ENSP00000354859.3:n.811-83G>T | |
| ENST00000538967.5:c.817-83G>T | ENSP00000438215.1:n.817-83G>T | |
| ENST00000542968.5:c.811-83G>T | ENSP00000442172.1:n.811-83G>T | |
| ENST00000544518.5:c.808-83G>T | ENSP00000441068.1:n.808-83G>T | |
| NM_000795.3:c.811-83G>T | NP_000786.1:n.811-83G>T | |
| NM_016574.3:c.724-83G>T | NP_057658.2:n.724-83G>T | |
| XM_017017296.2:c.811-83G>T | XP_016872785.1:n.811-83G>T | |
| NM_000795.4:c.811-83G>T MANE Select | NP_000786.1:n.811-83G>T | |
| NM_016574.4:c.724-83G>T | NP_057658.2:n.724-83G>T |