Linked Data
ClinVar Variation Id:
411559
dbSNP Id:
rs760485028
ExAC:
5:112175250 T / A
gnomAD v2:
5-112175250-T-A
gnomAD v3:
5-112839553-T-A
gnomAD v4:
5-112839553-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839553T>A , CM000667.2:g.112839553T>A | GRCh38 |
| NC_000005.9:g.112175250T>A , CM000667.1:g.112175250T>A | GRCh37 |
| NC_000005.8:g.112203149T>A | NCBI36 |
| NG_008481.4:g.152033T>A , LRG_130:g.152033T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3624T>A | ENSP00000484935.2:n.3624T>A | |
| ENST00000504915.3:c.4013T>A | ENSP00000473355.2:p.Val1338Glu | |
| ENST00000505350.2:c.*3965T>A | ENSP00000481752.1:n.*3965T>A | |
| ENST00000507379.6:c.3905T>A | ENSP00000423224.2:p.Val1302Glu | |
| ENST00000509732.6:c.3959T>A | ENSP00000426541.2:p.Val1320Glu | |
| ENST00000512211.7:c.3959T>A | ENSP00000423828.3:p.Val1320Glu | |
| ENST00000257430.9:c.3959T>A MANE Select | ENSP00000257430.4:p.Val1320Glu | |
| ENST00000257430.8:c.3959T>A | ENSP00000257430.4:p.Val1320Glu | |
| ENST00000502371.2:c.2312T>A | ||
| ENST00000508376.6:c.3959T>A | ENSP00000427089.2:p.Val1320Glu | |
| ENST00000508624.5:c.*3281T>A | ENSP00000424265.1:n.*3281T>A | |
| ENST00000520401.1:c.230+10581T>A | ||
| NM_000038.5:c.3959T>A | NP_000029.2:p.Val1320Glu | |
| NM_001127510.2:c.3959T>A | NP_001120982.1:p.Val1320Glu | |
| NM_001127511.2:c.3905T>A | NP_001120983.2:p.Val1302Glu | |
| NM_001354895.1:c.3959T>A | NP_001341824.1:p.Val1320Glu | |
| NM_001354896.1:c.4013T>A | NP_001341825.1:p.Val1338Glu | |
| NM_001354897.1:c.3989T>A | NP_001341826.1:p.Val1330Glu | |
| NM_001354898.1:c.3884T>A | NP_001341827.1:p.Val1295Glu | |
| NM_001354899.1:c.3875T>A | NP_001341828.1:p.Val1292Glu | |
| NM_001354900.1:c.3836T>A | NP_001341829.1:p.Val1279Glu | |
| NM_001354901.1:c.3782T>A | NP_001341830.1:p.Val1261Glu | |
| NM_001354902.1:c.3686T>A | NP_001341831.1:p.Val1229Glu | |
| NM_001354903.1:c.3656T>A | NP_001341832.1:p.Val1219Glu | |
| NM_001354904.1:c.3581T>A | NP_001341833.1:p.Val1194Glu | |
| NM_001354905.1:c.3479T>A | NP_001341834.1:p.Val1160Glu | |
| NM_001354906.1:c.3110T>A | NP_001341835.1:p.Val1037Glu | |
| NM_000038.6:c.3959T>A MANE Select | NP_000029.2:p.Val1320Glu | |
| NM_001127510.3:c.3959T>A | NP_001120982.1:p.Val1320Glu | |
| NM_001127511.3:c.3905T>A | NP_001120983.2:p.Val1302Glu | |
| NM_001354895.2:c.3959T>A | NP_001341824.1:p.Val1320Glu | |
| NM_001354896.2:c.4013T>A | NP_001341825.1:p.Val1338Glu | |
| NM_001354897.2:c.3989T>A | NP_001341826.1:p.Val1330Glu | |
| NM_001354898.2:c.3884T>A | NP_001341827.1:p.Val1295Glu | |
| NM_001354899.2:c.3875T>A | NP_001341828.1:p.Val1292Glu | |
| NM_001354900.2:c.3836T>A | NP_001341829.1:p.Val1279Glu | |
| NM_001354901.2:c.3782T>A | NP_001341830.1:p.Val1261Glu | |
| NM_001354902.2:c.3686T>A | NP_001341831.1:p.Val1229Glu | |
| NM_001354903.2:c.3656T>A | NP_001341832.1:p.Val1219Glu | |
| NM_001354904.2:c.3581T>A | NP_001341833.1:p.Val1194Glu | |
| NM_001354905.2:c.3479T>A | NP_001341834.1:p.Val1160Glu | |
| NM_001354906.2:c.3110T>A | NP_001341835.1:p.Val1037Glu |