Linked Data
ClinVar Variation Id:
1182413
ClinVar RCV Id:
RCV001540040
dbSNP Id:
rs140504
ExAC:
22:23627369 A / G
gnomAD v2:
22-23627369-A-G
gnomAD v3:
22-23285182-A-G
gnomAD v4:
22-23285182-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23285182A>G , CM000684.2:g.23285182A>G | GRCh38 |
| NC_000022.10:g.23627369A>G , CM000684.1:g.23627369A>G | GRCh37 |
| NC_000022.9:g.21957369A>G | NCBI36 |
| NG_009244.1:g.109818A>G | |
| NG_009244.2:g.109818A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305877.13:c.2387A>G MANE Select | ENSP00000303507.8:p.Asn796Ser | |
| ENST00000305877.12:c.2387A>G | ENSP00000303507.8:p.Asn796Ser | |
| ENST00000359540.7:c.2387A>G | ENSP00000352535.3:p.Asn796Ser | |
| ENST00000398512.9:c.1270-2962A>G | ENSP00000381524.6:n.1270-2962A>G | |
| ENST00000466076.1:n.461A>G | ||
| ENST00000487968.5:n.1040A>G | ||
| NM_004327.3:c.2387A>G | NP_004318.3:p.Asn796Ser | |
| NM_021574.2:c.2387A>G | NP_067585.2:p.Asn796Ser | |
| NM_004327.4:c.2387A>G MANE Select | NP_004318.3:p.Asn796Ser | |
| NM_021574.3:c.2387A>G | NP_067585.2:p.Asn796Ser |