Linked Data
ClinVar Variation Id:
1623449
ClinVar RCV Id:
RCV002104474
dbSNP Id:
rs769515151
ExAC:
17:17697004 G / A
gnomAD v2:
17-17697004-G-A
gnomAD v3:
17-17793690-G-A
gnomAD v4:
17-17793690-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17793690G>A , CM000679.2:g.17793690G>A | GRCh38 |
| NC_000017.10:g.17697004G>A , CM000679.1:g.17697004G>A | GRCh37 |
| NC_000017.9:g.17637729G>A | NCBI36 |
| NG_007101.2:g.117218G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353383.6:c.742G>A MANE Select | ENSP00000323074.4:p.Asp248Asn | |
| ENST00000640861.1:c.676G>A | ENSP00000491773.1:p.Asp226Asn | |
| ENST00000353383.5:c.742G>A | ENSP00000323074.4:p.Asp248Asn | |
| ENST00000395774.1:c.742G>A | ENSP00000379120.1:p.Asp248Asn | |
| NM_030665.3:c.742G>A | NP_109590.3:p.Asp248Asn | |
| XM_017024025.1:c.742G>A | XP_016879514.1:p.Asp248Asn | |
| XM_017024026.1:c.742G>A | XP_016879515.1:p.Asp248Asn | |
| XM_017024027.1:c.742G>A | XP_016879516.1:p.Asp248Asn | |
| XM_017024028.2:c.742G>A | XP_016879517.1:p.Asp248Asn | |
| NM_030665.4:c.742G>A MANE Select | NP_109590.3:p.Asp248Asn |