Linked Data
ClinVar Variation Id:
219469
ClinVar RCV Id:
RCV000206838
dbSNP Id:
rs763707275
ExAC:
2:215657092 T / C
gnomAD v2:
2-215657092-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214792368T>C , CM000664.2:g.214792368T>C | GRCh38 |
| NC_000002.11:g.215657092T>C , CM000664.1:g.215657092T>C | GRCh37 |
| NC_000002.10:g.215365337T>C | NCBI36 |
| NG_012047.2:g.22337A>G | |
| NG_012047.3:g.22344A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260947.9:c.293A>G MANE Select | ENSP00000260947.4:p.Asn98Ser | |
| ENST00000421162.2:c.215+4693A>G | ENSP00000392245.2:n.215+4693A>G | |
| ENST00000613192.2:c.158+17044A>G | ENSP00000483275.2:n.158+17044A>G | |
| ENST00000613374.5:c.158+17044A>G | ENSP00000484464.1:n.158+17044A>G | |
| ENST00000613706.5:c.293A>G | ENSP00000484976.2:p.Asn98Ser | |
| ENST00000617164.5:c.236A>G | ENSP00000480470.1:p.Asn79Ser | |
| ENST00000619009.5:c.293A>G | ENSP00000482293.1:p.Asn98Ser | |
| ENST00000650978.1:c.135A>G | ||
| ENST00000260947.8:c.293A>G | ENSP00000260947.4:p.Asn98Ser | |
| ENST00000421162.1:c.215+4693A>G | ENSP00000392245.1:n.215+4693A>G | |
| ENST00000455743.5:c.215+4693A>G | ENSP00000412186.1:n.215+4693A>G | |
| ENST00000471787.1:n.260-10859A>G | ||
| ENST00000613192.1:c.73+17044A>G | ENSP00000483275.1:n.73+17044A>G | |
| ENST00000613374.4:c.158+17044A>G | ENSP00000484464.1:n.158+17044A>G | |
| ENST00000613706.4:c.215+4693A>G | ENSP00000484976.1:n.215+4693A>G | |
| ENST00000617164.4:c.236A>G | ENSP00000480470.1:p.Asn79Ser | |
| ENST00000619009.4:c.293A>G | ENSP00000482293.1:p.Asn98Ser | |
| ENST00000620057.4:c.293A>G | ENSP00000481988.1:p.Asn98Ser | |
| NM_000465.3:c.293A>G | NP_000456.2:p.Asn98Ser | |
| NM_001282543.1:c.236A>G | NP_001269472.1:p.Asn79Ser | |
| NM_001282545.1:c.215+4693A>G | NP_001269474.1:n.215+4693A>G | |
| NM_001282548.1:c.158+17044A>G | NP_001269477.1:n.158+17044A>G | |
| NM_001282549.1:c.293A>G | NP_001269478.1:p.Asn98Ser | |
| NR_104212.1:n.357+4693A>G | ||
| NR_104215.1:n.301-10859A>G | ||
| NR_104216.1:n.435A>G | ||
| XM_011511567.1:c.239A>G | XP_011509869.1:p.Asn80Ser | |
| XM_011511568.1:c.293A>G | XP_011509870.1:p.Asn98Ser | |
| XM_017004613.1:c.392A>G | XP_016860102.1:p.Asn131Ser | |
| XM_017004614.1:c.392A>G | XP_016860103.1:p.Asn131Ser | |
| XR_002959322.1:n.483A>G | ||
| NM_000465.4:c.293A>G MANE Select | NP_000456.2:p.Asn98Ser | |
| NM_001282543.2:c.236A>G | NP_001269472.1:p.Asn79Ser | |
| NM_001282545.2:c.215+4693A>G | NP_001269474.1:n.215+4693A>G | |
| NM_001282548.2:c.158+17044A>G | NP_001269477.1:n.158+17044A>G | |
| NM_001282549.2:c.293A>G | NP_001269478.1:p.Asn98Ser | |
| NR_104212.2:n.329+4693A>G | ||
| NR_104215.2:n.273-10859A>G | ||
| NR_104216.2:n.407A>G |