Linked Data
ClinVar Variation Id:
141191
dbSNP Id:
rs139618756
ExAC:
5:112175363 G / A
gnomAD v2:
5-112175363-G-A
gnomAD v3:
5-112839666-G-A
gnomAD v4:
5-112839666-G-A
COSMIC:
COSM2991028
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839666G>A , CM000667.2:g.112839666G>A | GRCh38 |
| NC_000005.9:g.112175363G>A , CM000667.1:g.112175363G>A | GRCh37 |
| NC_000005.8:g.112203262G>A | NCBI36 |
| NG_008481.4:g.152146G>A , LRG_130:g.152146G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3737G>A | ENSP00000484935.2:n.3737G>A | |
| ENST00000504915.3:c.4126G>A | ENSP00000473355.2:p.Ala1376Thr | |
| ENST00000505350.2:c.*4078G>A | ENSP00000481752.1:n.*4078G>A | |
| ENST00000507379.6:c.4018G>A | ENSP00000423224.2:p.Ala1340Thr | |
| ENST00000509732.6:c.4072G>A | ENSP00000426541.2:p.Ala1358Thr | |
| ENST00000512211.7:c.4072G>A | ENSP00000423828.3:p.Ala1358Thr | |
| ENST00000257430.9:c.4072G>A MANE Select | ENSP00000257430.4:p.Ala1358Thr | |
| ENST00000257430.8:c.4072G>A | ENSP00000257430.4:p.Ala1358Thr | |
| ENST00000502371.2:c.2425G>A | ||
| ENST00000508376.6:c.4072G>A | ENSP00000427089.2:p.Ala1358Thr | |
| ENST00000508624.5:c.*3394G>A | ENSP00000424265.1:n.*3394G>A | |
| ENST00000520401.1:c.230+10694G>A | ||
| NM_000038.5:c.4072G>A | NP_000029.2:p.Ala1358Thr | |
| NM_001127510.2:c.4072G>A | NP_001120982.1:p.Ala1358Thr | |
| NM_001127511.2:c.4018G>A | NP_001120983.2:p.Ala1340Thr | |
| NM_001354895.1:c.4072G>A | NP_001341824.1:p.Ala1358Thr | |
| NM_001354896.1:c.4126G>A | NP_001341825.1:p.Ala1376Thr | |
| NM_001354897.1:c.4102G>A | NP_001341826.1:p.Ala1368Thr | |
| NM_001354898.1:c.3997G>A | NP_001341827.1:p.Ala1333Thr | |
| NM_001354899.1:c.3988G>A | NP_001341828.1:p.Ala1330Thr | |
| NM_001354900.1:c.3949G>A | NP_001341829.1:p.Ala1317Thr | |
| NM_001354901.1:c.3895G>A | NP_001341830.1:p.Ala1299Thr | |
| NM_001354902.1:c.3799G>A | NP_001341831.1:p.Ala1267Thr | |
| NM_001354903.1:c.3769G>A | NP_001341832.1:p.Ala1257Thr | |
| NM_001354904.1:c.3694G>A | NP_001341833.1:p.Ala1232Thr | |
| NM_001354905.1:c.3592G>A | NP_001341834.1:p.Ala1198Thr | |
| NM_001354906.1:c.3223G>A | NP_001341835.1:p.Ala1075Thr | |
| NM_000038.6:c.4072G>A MANE Select | NP_000029.2:p.Ala1358Thr | |
| NM_001127510.3:c.4072G>A | NP_001120982.1:p.Ala1358Thr | |
| NM_001127511.3:c.4018G>A | NP_001120983.2:p.Ala1340Thr | |
| NM_001354895.2:c.4072G>A | NP_001341824.1:p.Ala1358Thr | |
| NM_001354896.2:c.4126G>A | NP_001341825.1:p.Ala1376Thr | |
| NM_001354897.2:c.4102G>A | NP_001341826.1:p.Ala1368Thr | |
| NM_001354898.2:c.3997G>A | NP_001341827.1:p.Ala1333Thr | |
| NM_001354899.2:c.3988G>A | NP_001341828.1:p.Ala1330Thr | |
| NM_001354900.2:c.3949G>A | NP_001341829.1:p.Ala1317Thr | |
| NM_001354901.2:c.3895G>A | NP_001341830.1:p.Ala1299Thr | |
| NM_001354902.2:c.3799G>A | NP_001341831.1:p.Ala1267Thr | |
| NM_001354903.2:c.3769G>A | NP_001341832.1:p.Ala1257Thr | |
| NM_001354904.2:c.3694G>A | NP_001341833.1:p.Ala1232Thr | |
| NM_001354905.2:c.3592G>A | NP_001341834.1:p.Ala1198Thr | |
| NM_001354906.2:c.3223G>A | NP_001341835.1:p.Ala1075Thr |