Linked Data
ClinVar Variation Id:
482763
dbSNP Id:
rs1475259063
gnomAD v2:
2-215609847-C-T
gnomAD v3:
2-214745123-C-T
gnomAD v4:
2-214745123-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214745123C>T , CM000664.2:g.214745123C>T | GRCh38 |
| NC_000002.11:g.215609847C>T , CM000664.1:g.215609847C>T | GRCh37 |
| NC_000002.10:g.215318092C>T | NCBI36 |
| NG_012047.2:g.69582G>A | |
| NG_012047.3:g.69589G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1847G>A MANE Select | ENSP00000260947.4:p.Ser616Asn | |
| ENST00000421162.2:c.494G>A | ENSP00000392245.2:p.Ser165Asn | |
| ENST00000613192.2:c.159-14615G>A | ENSP00000483275.2:n.159-14615G>A | |
| ENST00000613374.5:c.437G>A | ENSP00000484464.1:p.Ser146Asn | |
| ENST00000613706.5:c.1439G>A | ENSP00000484976.2:p.Ser480Asn | |
| ENST00000617164.5:c.1790G>A | ENSP00000480470.1:p.Ser597Asn | |
| ENST00000619009.5:c.365-14615G>A | ENSP00000482293.1:n.365-14615G>A | |
| ENST00000650978.1:c.3222G>A | ||
| ENST00000260947.8:c.1847G>A | ENSP00000260947.4:p.Ser616Asn | |
| ENST00000421162.1:c.494G>A | ENSP00000392245.1:p.Ser165Asn | |
| ENST00000455743.5:c.*1467G>A | ENSP00000412186.1:n.*1467G>A | |
| ENST00000613192.1:c.74-14615G>A | ENSP00000483275.1:n.74-14615G>A | |
| ENST00000613374.4:c.437G>A | ENSP00000484464.1:p.Ser146Asn | |
| ENST00000613706.4:c.494G>A | ENSP00000484976.1:p.Ser165Asn | |
| ENST00000617164.4:c.1790G>A | ENSP00000480470.1:p.Ser597Asn | |
| ENST00000619009.4:c.365-14615G>A | ENSP00000482293.1:n.365-14615G>A | |
| ENST00000620057.4:c.*513G>A | ENSP00000481988.1:n.*513G>A | |
| NM_000465.3:c.1847G>A | NP_000456.2:p.Ser616Asn | |
| NM_001282543.1:c.1790G>A | NP_001269472.1:p.Ser597Asn | |
| NM_001282545.1:c.494G>A | NP_001269474.1:p.Ser165Asn | |
| NM_001282548.1:c.437G>A | NP_001269477.1:p.Ser146Asn | |
| NM_001282549.1:c.365-14615G>A | NP_001269478.1:n.365-14615G>A | |
| NR_104212.1:n.1840G>A | ||
| NR_104215.1:n.1783G>A | ||
| NR_104216.1:n.1039G>A | ||
| XM_011511567.1:c.1793G>A | XP_011509869.1:p.Ser598Asn | |
| XM_011511568.1:c.1847G>A | XP_011509870.1:p.Ser616Asn | |
| XM_017004613.1:c.1946G>A | XP_016860102.1:p.Ser649Asn | |
| XM_017004614.1:c.1946G>A | XP_016860103.1:p.Ser649Asn | |
| XR_002959322.1:n.2037G>A | ||
| NM_000465.4:c.1847G>A MANE Select | NP_000456.2:p.Ser616Asn | |
| NM_001282543.2:c.1790G>A | NP_001269472.1:p.Ser597Asn | |
| NM_001282545.2:c.494G>A | NP_001269474.1:p.Ser165Asn | |
| NM_001282548.2:c.437G>A | NP_001269477.1:p.Ser146Asn | |
| NM_001282549.2:c.365-14615G>A | NP_001269478.1:n.365-14615G>A | |
| NR_104212.2:n.1812G>A | ||
| NR_104215.2:n.1755G>A | ||
| NR_104216.2:n.1011G>A |