Linked Data
ClinVar Variation Id:
2194762
ClinVar RCV Id:
RCV002637310
dbSNP Id:
rs767599203
ExAC:
1:68897038 T / C
gnomAD v2:
1-68897038-T-C
gnomAD v4:
1-68431355-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431355T>C , CM000663.2:g.68431355T>C | GRCh38 |
| NC_000001.10:g.68897038T>C , CM000663.1:g.68897038T>C | GRCh37 |
| NC_000001.9:g.68669626T>C | NCBI36 |
| NG_008472.1:g.23605A>G | |
| NG_008472.2:g.23605A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1265A>G MANE Select | ENSP00000262340.5:p.Asn422Ser | |
| ENST00000262340.5:c.1265A>G | ENSP00000262340.5:p.Asn422Ser | |
| NM_000329.2:c.1265A>G | NP_000320.1:p.Asn422Ser | |
| XM_017002027.1:c.989A>G | XP_016857516.1:p.Asn330Ser | |
| NM_000329.3:c.1265A>G MANE Select | NP_000320.1:p.Asn422Ser |