Linked Data
ClinVar Variation Id:
182054
dbSNP Id:
rs730881424
ExAC:
2:215593555 C / T
gnomAD v2:
2-215593555-C-T
gnomAD v3:
2-214728831-C-T
gnomAD v4:
2-214728831-C-T
PubMed:
PMID:24816253
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728831C>T , CM000664.2:g.214728831C>T | GRCh38 |
| NC_000002.11:g.215593555C>T , CM000664.1:g.215593555C>T | GRCh37 |
| NC_000002.10:g.215301800C>T | NCBI36 |
| NG_012047.2:g.85874G>A | |
| NG_012047.3:g.85881G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2179G>A MANE Select | ENSP00000260947.4:p.Asp727Asn | |
| ENST00000421162.2:c.826G>A | ENSP00000392245.2:p.Asp276Asn | |
| ENST00000613192.2:c.*242G>A | ENSP00000483275.2:n.*242G>A | |
| ENST00000613374.5:c.769G>A | ENSP00000484464.1:p.Asp257Asn | |
| ENST00000613706.5:c.1771G>A | ENSP00000484976.2:p.Asp591Asn | |
| ENST00000617164.5:c.2122G>A | ENSP00000480470.1:p.Asp708Asn | |
| ENST00000619009.5:c.640G>A | ENSP00000482293.1:p.Asp214Asn | |
| ENST00000650978.1:c.3554G>A | ||
| ENST00000260947.8:c.2179G>A | ENSP00000260947.4:p.Asp727Asn | |
| ENST00000432456.5:c.322G>A | ||
| ENST00000455743.5:c.*1799G>A | ENSP00000412186.1:n.*1799G>A | |
| ENST00000471590.5:n.514G>A | ||
| ENST00000613192.1:c.349G>A | ENSP00000483275.1:p.Asp117Asn | |
| ENST00000613374.4:c.769G>A | ENSP00000484464.1:p.Asp257Asn | |
| ENST00000613706.4:c.826G>A | ENSP00000484976.1:p.Asp276Asn | |
| ENST00000617164.4:c.2122G>A | ENSP00000480470.1:p.Asp708Asn | |
| ENST00000619009.4:c.640G>A | ENSP00000482293.1:p.Asp214Asn | |
| ENST00000620057.4:c.*845G>A | ENSP00000481988.1:n.*845G>A | |
| NM_000465.3:c.2179G>A | NP_000456.2:p.Asp727Asn | |
| NM_001282543.1:c.2122G>A | NP_001269472.1:p.Asp708Asn | |
| NM_001282545.1:c.826G>A | NP_001269474.1:p.Asp276Asn | |
| NM_001282548.1:c.769G>A | NP_001269477.1:p.Asp257Asn | |
| NM_001282549.1:c.640G>A | NP_001269478.1:p.Asp214Asn | |
| NR_104212.1:n.2172G>A | ||
| NR_104215.1:n.2115G>A | ||
| NR_104216.1:n.1371G>A | ||
| XM_011511567.1:c.2125G>A | XP_011509869.1:p.Asp709Asn | |
| XM_017004613.1:c.2278G>A | XP_016860102.1:p.Asp760Asn | |
| XR_002959322.1:n.2545G>A | ||
| NM_000465.4:c.2179G>A MANE Select | NP_000456.2:p.Asp727Asn | |
| NM_001282543.2:c.2122G>A | NP_001269472.1:p.Asp708Asn | |
| NM_001282545.2:c.826G>A | NP_001269474.1:p.Asp276Asn | |
| NM_001282548.2:c.769G>A | NP_001269477.1:p.Asp257Asn | |
| NM_001282549.2:c.640G>A | NP_001269478.1:p.Asp214Asn | |
| NR_104212.2:n.2144G>A | ||
| NR_104215.2:n.2087G>A | ||
| NR_104216.2:n.1343G>A |