dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17249316 (AFR)
Genomes Max Group AF
0.17250143 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100186688C>T , CM000672.2:g.100186688C>T | GRCh38 |
| NC_000010.10:g.101946445C>T , CM000672.1:g.101946445C>T | GRCh37 |
| NC_000010.9:g.101936435C>T | NCBI36 |
| NG_028023.1:g.47900G>A | |
| NG_052910.1:g.4370G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421367.6:c.-1062G>A (ERLIN1) | ENSP00000410964.2:n.-1062G>A | |
| XM_011539196.1:c.2209-246G>A (CHUK) | XP_011537498.1:n.2209-246G>A | |
| XM_011539198.1:c.*32-246G>A (CHUK) | XP_011537500.1:n.*32-246G>A |