Linked Data
dbSNP Id:
rs134882
gnomAD v2:
22-42670965-T-C
gnomAD v3:
22-42274959-T-C
gnomAD v4:
22-42274959-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42274959T>C , CM000684.2:g.42274959T>C | GRCh38 |
| NC_000022.10:g.42670965T>C , CM000684.1:g.42670965T>C | GRCh37 |
| NC_000022.9:g.41000909T>C | NCBI36 |
| NG_028982.3:g.73658A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359486.8:c.-37+8868A>G | ENSP00000352463.3:n.-37+8868A>G | |
| ENST00000675876.1:c.-37+43105A>G | ENSP00000502259.1:n.-37+43105A>G | |
| ENST00000515426.1:c.-36-59618A>G | ENSP00000458948.1:n.-36-59618A>G | |
| NM_005650.3:c.-37+8868A>G | NP_005641.1:n.-37+8868A>G | |
| NM_005650.4:c.-37+8868A>G | NP_005641.1:n.-37+8868A>G |