Linked Data
dbSNP Id:
rs1080984
gnomAD v2:
22-42528392-A-G
gnomAD v3:
22-42132385-A-G
gnomAD v4:
22-42132385-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42132385A>G , CM000684.2:g.42132385A>G | GRCh38 |
| NC_000022.10:g.42528392A>G , CM000684.1:g.42528392A>G | GRCh37 |
| NC_000022.9:g.40858336A>G | NCBI36 |
| NG_008376.3:g.2607T>C | |
| NG_008376.4:g.3426T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_011529967.1:c.-1045-549T>C | XP_011528269.1:n.-1045-549T>C |