Linked Data
dbSNP Id:
rs747177120
ExAC:
1:109807143 A / G
gnomAD v2:
1-109807143-A-G
gnomAD v3:
1-109264521-A-G
gnomAD v4:
1-109264521-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109264521A>G , CM000663.2:g.109264521A>G | GRCh38 |
| NC_000001.10:g.109807143A>G , CM000663.1:g.109807143A>G | GRCh37 |
| NC_000001.9:g.109608666A>G | NCBI36 |
| NG_052669.1:g.19817A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271332.4:c.5357A>G MANE Select | ENSP00000271332.3:p.Asn1786Ser | |
| ENST00000271332.3:c.5357A>G | ENSP00000271332.3:p.Asn1786Ser | |
| NM_001408.2:c.5357A>G | NP_001399.1:p.Asn1786Ser | |
| XM_005270580.3:c.5357A>G | XP_005270637.1:p.Asn1786Ser | |
| NM_001408.3:c.5357A>G MANE Select | NP_001399.1:p.Asn1786Ser |