gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68667091 (NFE)
Genomes Max Group AF
0.68667091 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102840830A>G , CM000675.2:g.102840830A>G | GRCh38 |
| NC_000013.10:g.103493180A>G , CM000675.1:g.103493180A>G | GRCh37 |
| NC_000013.9:g.102291181A>G | NCBI36 |
| NG_007146.1:g.7A>G , LRG_464:g.7A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257336.6:c.*965A>G (BIVM) MANE Select | ENSP00000257336.1:n.*965A>G | |
| ENST00000638434.1:c.363-12927A>G (BIVM-ERCC5) | ||
| ENST00000639118.1:c.363-8288A>G (BIVM-ERCC5) | ||
| ENST00000639132.1:c.763+1027A>G (BIVM-ERCC5) | ENSP00000492684.1:n.763+1027A>G | |
| ENST00000639435.1:c.1450+1027A>G (BIVM-ERCC5) | ENSP00000491742.1:n.1450+1027A>G | |
| ENST00000257336.5:c.*965A>G (BIVM) | ENSP00000257336.1:n.*965A>G | |
| ENST00000448849.2:c.*965A>G (BIVM) | ENSP00000412794.2:n.*965A>G | |
| ENST00000602836.1:c.1364+1027A>G (BIVM-ERCC5) | ||
| NM_001159596.1:c.*965A>G (BIVM) | NP_001153068.1:n.*965A>G | |
| NM_001204425.1:c.1450+1027A>G (BIVM-ERCC5) | NP_001191354.1:n.1450+1027A>G | |
| NM_017693.3:c.*965A>G (BIVM) | NP_060163.2:n.*965A>G | |
| NM_017693.4:c.*965A>G (BIVM) MANE Select | NP_060163.2:n.*965A>G | |
| NM_001159596.2:c.*965A>G (BIVM) | NP_001153068.1:n.*965A>G | |
| NM_001204425.2:c.1450+1027A>G (BIVM-ERCC5) | NP_001191354.2:n.1450+1027A>G |