Linked Data
ClinVar Variation Id:
411428
dbSNP Id:
rs1060503299
COSMIC:
COSM98445
PubMed:
PMID:18433509
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839421C>A , CM000667.2:g.112839421C>A | GRCh38 |
| NC_000005.9:g.112175118C>A , CM000667.1:g.112175118C>A | GRCh37 |
| NC_000005.8:g.112203017C>A | NCBI36 |
| NG_008481.4:g.151901C>A , LRG_130:g.151901C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502371.3:c.3492C>A | ENSP00000484935.2:n.3492C>A | |
| ENST00000504915.3:c.3881C>A | ENSP00000473355.2:p.Ser1294Ter | |
| ENST00000505350.2:c.*3833C>A | ENSP00000481752.1:n.*3833C>A | |
| ENST00000507379.6:c.3773C>A | ENSP00000423224.2:p.Ser1258Ter | |
| ENST00000509732.6:c.3827C>A | ENSP00000426541.2:p.Ser1276Ter | |
| ENST00000512211.7:c.3827C>A | ENSP00000423828.3:p.Ser1276Ter | |
| ENST00000257430.9:c.3827C>A MANE Select | ENSP00000257430.4:p.Ser1276Ter | |
| ENST00000257430.8:c.3827C>A | ENSP00000257430.4:p.Ser1276Ter | |
| ENST00000502371.2:c.2180C>A | ||
| ENST00000508376.6:c.3827C>A | ENSP00000427089.2:p.Ser1276Ter | |
| ENST00000508624.5:c.*3149C>A | ENSP00000424265.1:n.*3149C>A | |
| ENST00000512211.6:c.3827C>A | ENSP00000423828.2:p.Ser1276Ter | |
| ENST00000520401.1:c.230+10449C>A | ||
| NM_000038.5:c.3827C>A | NP_000029.2:p.Ser1276Ter | |
| NM_001127510.2:c.3827C>A | NP_001120982.1:p.Ser1276Ter | |
| NM_001127511.2:c.3773C>A | NP_001120983.2:p.Ser1258Ter | |
| NM_001354895.1:c.3827C>A | NP_001341824.1:p.Ser1276Ter | |
| NM_001354896.1:c.3881C>A | NP_001341825.1:p.Ser1294Ter | |
| NM_001354897.1:c.3857C>A | NP_001341826.1:p.Ser1286Ter | |
| NM_001354898.1:c.3752C>A | NP_001341827.1:p.Ser1251Ter | |
| NM_001354899.1:c.3743C>A | NP_001341828.1:p.Ser1248Ter | |
| NM_001354900.1:c.3704C>A | NP_001341829.1:p.Ser1235Ter | |
| NM_001354901.1:c.3650C>A | NP_001341830.1:p.Ser1217Ter | |
| NM_001354902.1:c.3554C>A | NP_001341831.1:p.Ser1185Ter | |
| NM_001354903.1:c.3524C>A | NP_001341832.1:p.Ser1175Ter | |
| NM_001354904.1:c.3449C>A | NP_001341833.1:p.Ser1150Ter | |
| NM_001354905.1:c.3347C>A | NP_001341834.1:p.Ser1116Ter | |
| NM_001354906.1:c.2978C>A | NP_001341835.1:p.Ser993Ter | |
| NM_000038.6:c.3827C>A MANE Select | NP_000029.2:p.Ser1276Ter | |
| NM_001127510.3:c.3827C>A | NP_001120982.1:p.Ser1276Ter | |
| NM_001127511.3:c.3773C>A | NP_001120983.2:p.Ser1258Ter | |
| NM_001354895.2:c.3827C>A | NP_001341824.1:p.Ser1276Ter | |
| NM_001354896.2:c.3881C>A | NP_001341825.1:p.Ser1294Ter | |
| NM_001354897.2:c.3857C>A | NP_001341826.1:p.Ser1286Ter | |
| NM_001354898.2:c.3752C>A | NP_001341827.1:p.Ser1251Ter | |
| NM_001354899.2:c.3743C>A | NP_001341828.1:p.Ser1248Ter | |
| NM_001354900.2:c.3704C>A | NP_001341829.1:p.Ser1235Ter | |
| NM_001354901.2:c.3650C>A | NP_001341830.1:p.Ser1217Ter | |
| NM_001354902.2:c.3554C>A | NP_001341831.1:p.Ser1185Ter | |
| NM_001354903.2:c.3524C>A | NP_001341832.1:p.Ser1175Ter | |
| NM_001354904.2:c.3449C>A | NP_001341833.1:p.Ser1150Ter | |
| NM_001354905.2:c.3347C>A | NP_001341834.1:p.Ser1116Ter | |
| NM_001354906.2:c.2978C>A | NP_001341835.1:p.Ser993Ter |