Linked Data
ClinVar Variation Id:
807979
ClinVar RCV Id:
RCV000996195
dbSNP Id:
rs1596788162
gnomAD v4:
16-3729829-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729829G>T , CM000678.2:g.3729829G>T | GRCh38 |
| NC_000016.9:g.3779830G>T , CM000678.1:g.3779830G>T | GRCh37 |
| NC_000016.8:g.3719831G>T | NCBI36 |
| NG_009873.1:g.155292C>A | |
| NG_009873.2:g.155885C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5218C>A MANE Select | ENSP00000262367.5:p.His1740Asn | |
| ENST00000262367.9:c.5218C>A | ENSP00000262367.5:p.His1740Asn | |
| ENST00000382070.7:c.5104C>A | ENSP00000371502.3:p.His1702Asn | |
| NM_001079846.1:c.5104C>A | NP_001073315.1:p.His1702Asn | |
| NM_004380.2:c.5218C>A | NP_004371.2:p.His1740Asn | |
| XM_005255124.3:c.5173C>A | XP_005255181.1:p.His1725Asn | |
| XM_005255125.3:c.4801C>A | XP_005255182.1:p.His1601Asn | |
| XM_006720848.2:c.4957C>A | XP_006720911.1:p.His1653Asn | |
| XM_011522380.1:c.5164C>A | XP_011520682.1:p.His1722Asn | |
| XM_011522381.1:c.4465C>A | XP_011520683.1:p.His1489Asn | |
| XM_005255124.4:c.5173C>A | XP_005255181.1:p.His1725Asn | |
| XM_005255125.4:c.4801C>A | XP_005255182.1:p.His1601Asn | |
| XM_006720848.3:c.4957C>A | XP_006720911.1:p.His1653Asn | |
| XM_011522381.2:c.4465C>A | XP_011520683.1:p.His1489Asn | |
| XM_017022944.1:c.5212C>A | XP_016878433.1:p.His1738Asn | |
| NM_004380.3:c.5218C>A MANE Select | NP_004371.2:p.His1740Asn |