Linked Data
ClinVar Variation Id:
787781
ClinVar RCV Id:
RCV000970087
dbSNP Id:
rs61731214
ExAC:
3:13670493 C / A
gnomAD v2:
3-13670493-C-A
gnomAD v3:
3-13628993-C-A
gnomAD v4:
3-13628993-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.13628993C>A , CM000665.2:g.13628993C>A | GRCh38 |
| NC_000003.11:g.13670493C>A , CM000665.1:g.13670493C>A | GRCh37 |
| NC_000003.10:g.13645494C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404922.8:c.2658C>A MANE Select | ENSP00000384169.3:p.Asn886Lys | |
| ENST00000295760.11:c.2517C>A | ENSP00000295760.7:p.Asn839Lys | |
| ENST00000404922.7:c.2658C>A | ENSP00000384169.3:p.Asn886Lys | |
| ENST00000492059.5:c.2658C>A | ENSP00000420042.1:p.Asn886Lys | |
| NM_001004019.1:c.2658C>A | NP_001004019.1:p.Asn886Lys | |
| NM_001165035.1:c.2658C>A | NP_001158507.1:p.Asn886Lys | |
| NM_001998.2:c.2517C>A | NP_001989.2:p.Asn839Lys | |
| XM_006713026.2:c.2658C>A | XP_006713089.1:p.Asn886Lys | |
| NM_001004019.2:c.2658C>A MANE Select | NP_001004019.1:p.Asn886Lys | |
| NM_001165035.2:c.2658C>A | NP_001158507.1:p.Asn886Lys | |
| NM_001998.3:c.2517C>A | NP_001989.2:p.Asn839Lys |