Linked Data
ClinVar Variation Id:
1954251
ClinVar RCV Id:
RCV002705466
dbSNP Id:
rs755981642
ExAC:
17:7126993 G / A
gnomAD v2:
17-7126993-G-A
gnomAD v4:
17-7223674-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223674G>A , CM000679.2:g.7223674G>A | GRCh38 |
| NC_000017.10:g.7126993G>A , CM000679.1:g.7126993G>A | GRCh37 |
| NC_000017.9:g.7067717G>A | NCBI36 |
| NG_007975.1:g.8841G>A | |
| NG_008391.2:g.1377C>T | |
| NG_033038.1:g.15871C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1213G>A MANE Select | ENSP00000349297.5:p.Asp405Asn | |
| ENST00000322910.9:c.*1168G>A | ENSP00000325395.5:n.*1168G>A | |
| ENST00000350303.9:c.1147G>A | ENSP00000344152.5:p.Asp383Asn | |
| ENST00000356839.9:c.1213G>A | ENSP00000349297.5:p.Asp405Asn | |
| ENST00000542255.6:c.71G>A | ||
| ENST00000543245.6:c.1282G>A | ENSP00000438689.2:p.Asp428Asn | |
| ENST00000578579.2:n.384G>A | ||
| ENST00000578711.1:n.170G>A | ||
| ENST00000578824.5:n.629G>A | ||
| ENST00000579425.5:n.237G>A | ||
| ENST00000579546.1:c.50G>A | ||
| ENST00000583858.5:c.242G>A | ||
| ENST00000585203.6:n.421G>A | ||
| NM_000018.3:c.1213G>A | NP_000009.1:p.Asp405Asn | |
| NM_001033859.2:c.1147G>A | NP_001029031.1:p.Asp383Asn | |
| NM_001270447.1:c.1282G>A | NP_001257376.1:p.Asp428Asn | |
| NM_001270448.1:c.985G>A | NP_001257377.1:p.Asp329Asn | |
| XM_006721516.2:c.1213G>A | XP_006721579.2:p.Asp405Asn | |
| XM_011523829.1:c.1213G>A | XP_011522131.1:p.Asp405Asn | |
| XM_011523830.1:c.1213G>A | XP_011522132.1:p.Asp405Asn | |
| XR_934021.1:n.1320G>A | ||
| XR_934022.1:n.1320G>A | ||
| XR_934023.1:n.1320G>A | ||
| XM_006721516.3:c.1213G>A | XP_006721579.2:p.Asp405Asn | |
| XM_011523829.2:c.1213G>A | XP_011522131.1:p.Asp405Asn | |
| XM_011523830.2:c.1213G>A | XP_011522132.1:p.Asp405Asn | |
| XM_024450741.1:c.1213G>A | XP_024306509.1:p.Asp405Asn | |
| XR_934021.2:n.1272G>A | ||
| XR_934022.2:n.1272G>A | ||
| XR_934023.2:n.1272G>A | ||
| NM_000018.4:c.1213G>A MANE Select | NP_000009.1:p.Asp405Asn | |
| NM_001033859.3:c.1147G>A | NP_001029031.1:p.Asp383Asn | |
| NM_001270447.2:c.1282G>A | NP_001257376.1:p.Asp428Asn | |
| NM_001270448.2:c.985G>A | NP_001257377.1:p.Asp329Asn |