Linked Data
ClinVar Variation Id:
341236
dbSNP Id:
rs17683011
ExAC:
22:32445946 A / G
gnomAD v2:
22-32445946-A-G
gnomAD v3:
22-32049959-A-G
gnomAD v4:
22-32049959-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32049959A>G , CM000684.2:g.32049959A>G | GRCh38 |
| NC_000022.10:g.32445946A>G , CM000684.1:g.32445946A>G | GRCh37 |
| NC_000022.9:g.30775946A>G | NCBI36 |
| NG_017045.1:g.11928A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000266088.9:c.152A>G MANE Select | ENSP00000266088.4:p.Asn51Ser | |
| ENST00000266088.8:c.152A>G | ENSP00000266088.4:p.Asn51Ser | |
| NM_000343.3:c.152A>G | NP_000334.1:p.Asn51Ser | |
| XM_011530331.1:c.152A>G | XP_011528633.1:p.Asn51Ser | |
| NM_000343.4:c.152A>G MANE Select | NP_000334.1:p.Asn51Ser |