Linked Data
ClinVar Variation Id:
470052
dbSNP Id:
rs764255983
ExAC:
5:112177845 G / A
gnomAD v2:
5-112177845-G-A
gnomAD v4:
5-112842148-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842148G>A , CM000667.2:g.112842148G>A | GRCh38 |
| NC_000005.9:g.112177845G>A , CM000667.1:g.112177845G>A | GRCh37 |
| NC_000005.8:g.112205744G>A | NCBI36 |
| NG_008481.4:g.154628G>A , LRG_130:g.154628G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.6608G>A | ENSP00000473355.2:p.Ser2203Asn | |
| ENST00000505350.2:c.*6560G>A | ENSP00000481752.1:n.*6560G>A | |
| ENST00000507379.6:c.6500G>A | ENSP00000423224.2:p.Ser2167Asn | |
| ENST00000509732.6:c.6554G>A | ENSP00000426541.2:p.Ser2185Asn | |
| ENST00000512211.7:c.6554G>A | ENSP00000423828.3:p.Ser2185Asn | |
| ENST00000257430.9:c.6554G>A MANE Select | ENSP00000257430.4:p.Ser2185Asn | |
| ENST00000257430.8:c.6554G>A | ENSP00000257430.4:p.Ser2185Asn | |
| ENST00000508376.6:c.6554G>A | ENSP00000427089.2:p.Ser2185Asn | |
| ENST00000508624.5:c.*5876G>A | ENSP00000424265.1:n.*5876G>A | |
| ENST00000520401.1:c.230+13176G>A | ||
| NM_000038.5:c.6554G>A | NP_000029.2:p.Ser2185Asn | |
| NM_001127510.2:c.6554G>A | NP_001120982.1:p.Ser2185Asn | |
| NM_001127511.2:c.6500G>A | NP_001120983.2:p.Ser2167Asn | |
| NM_001354895.1:c.6554G>A | NP_001341824.1:p.Ser2185Asn | |
| NM_001354896.1:c.6608G>A | NP_001341825.1:p.Ser2203Asn | |
| NM_001354897.1:c.6584G>A | NP_001341826.1:p.Ser2195Asn | |
| NM_001354898.1:c.6479G>A | NP_001341827.1:p.Ser2160Asn | |
| NM_001354899.1:c.6470G>A | NP_001341828.1:p.Ser2157Asn | |
| NM_001354900.1:c.6431G>A | NP_001341829.1:p.Ser2144Asn | |
| NM_001354901.1:c.6377G>A | NP_001341830.1:p.Ser2126Asn | |
| NM_001354902.1:c.6281G>A | NP_001341831.1:p.Ser2094Asn | |
| NM_001354903.1:c.6251G>A | NP_001341832.1:p.Ser2084Asn | |
| NM_001354904.1:c.6176G>A | NP_001341833.1:p.Ser2059Asn | |
| NM_001354905.1:c.6074G>A | NP_001341834.1:p.Ser2025Asn | |
| NM_001354906.1:c.5705G>A | NP_001341835.1:p.Ser1902Asn | |
| NM_000038.6:c.6554G>A MANE Select | NP_000029.2:p.Ser2185Asn | |
| NM_001127510.3:c.6554G>A | NP_001120982.1:p.Ser2185Asn | |
| NM_001127511.3:c.6500G>A | NP_001120983.2:p.Ser2167Asn | |
| NM_001354895.2:c.6554G>A | NP_001341824.1:p.Ser2185Asn | |
| NM_001354896.2:c.6608G>A | NP_001341825.1:p.Ser2203Asn | |
| NM_001354897.2:c.6584G>A | NP_001341826.1:p.Ser2195Asn | |
| NM_001354898.2:c.6479G>A | NP_001341827.1:p.Ser2160Asn | |
| NM_001354899.2:c.6470G>A | NP_001341828.1:p.Ser2157Asn | |
| NM_001354900.2:c.6431G>A | NP_001341829.1:p.Ser2144Asn | |
| NM_001354901.2:c.6377G>A | NP_001341830.1:p.Ser2126Asn | |
| NM_001354902.2:c.6281G>A | NP_001341831.1:p.Ser2094Asn | |
| NM_001354903.2:c.6251G>A | NP_001341832.1:p.Ser2084Asn | |
| NM_001354904.2:c.6176G>A | NP_001341833.1:p.Ser2059Asn | |
| NM_001354905.2:c.6074G>A | NP_001341834.1:p.Ser2025Asn | |
| NM_001354906.2:c.5705G>A | NP_001341835.1:p.Ser1902Asn |