Linked Data
ClinVar Variation Id:
806
ClinVar RCV Id:
RCV000000843
RCV000000844
RCV000490845
RCV000503851
RCV000657602
RCV002227968
RCV003743544
dbSNP Id:
rs137854572
COSMIC:
COSM13860
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112828001C>T , CM000667.2:g.112828001C>T | GRCh38 |
| NC_000005.9:g.112163698C>T , CM000667.1:g.112163698C>T | GRCh37 |
| NC_000005.8:g.112191597C>T | NCBI36 |
| NG_008481.4:g.140481C>T , LRG_130:g.140481C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1408+6010C>T | ENSP00000484935.2:n.1408+6010C>T | |
| ENST00000504915.3:c.1675C>T | ENSP00000473355.2:p.Gln559Ter | |
| ENST00000505084.2:n.1677C>T | ||
| ENST00000505350.2:c.*1627C>T | ENSP00000481752.1:n.*1627C>T | |
| ENST00000507379.6:c.1567C>T | ENSP00000423224.2:p.Gln523Ter | |
| ENST00000509732.6:c.1621C>T | ENSP00000426541.2:p.Gln541Ter | |
| ENST00000512211.7:c.1621C>T | ENSP00000423828.3:p.Gln541Ter | |
| ENST00000257430.9:c.1621C>T MANE Select | ENSP00000257430.4:p.Gln541Ter | |
| ENST00000257430.8:c.1621C>T | ENSP00000257430.4:p.Gln541Ter | |
| ENST00000502371.2:c.96+6010C>T | ||
| ENST00000504915.2:c.310C>T | ENSP00000473355.1:p.Gln104Ter | |
| ENST00000505084.1:n.108C>T | ||
| ENST00000507379.5:c.1567C>T | ENSP00000423224.1:p.Gln523Ter | |
| ENST00000508376.6:c.1621C>T | ENSP00000427089.2:p.Gln541Ter | |
| ENST00000508624.5:c.*943C>T | ENSP00000424265.1:n.*943C>T | |
| ENST00000512211.6:c.1621C>T | ENSP00000423828.2:p.Gln541Ter | |
| ENST00000520401.1:c.108C>T | ||
| NM_000038.5:c.1621C>T | NP_000029.2:p.Gln541Ter | |
| NM_001127510.2:c.1621C>T | NP_001120982.1:p.Gln541Ter | |
| NM_001127511.2:c.1567C>T | NP_001120983.2:p.Gln523Ter | |
| NM_001354895.1:c.1621C>T | NP_001341824.1:p.Gln541Ter | |
| NM_001354896.1:c.1675C>T | NP_001341825.1:p.Gln559Ter | |
| NM_001354897.1:c.1651C>T | NP_001341826.1:p.Gln551Ter | |
| NM_001354898.1:c.1546C>T | NP_001341827.1:p.Gln516Ter | |
| NM_001354899.1:c.1537C>T | NP_001341828.1:p.Gln513Ter | |
| NM_001354900.1:c.1498C>T | NP_001341829.1:p.Gln500Ter | |
| NM_001354901.1:c.1444C>T | NP_001341830.1:p.Gln482Ter | |
| NM_001354902.1:c.1348C>T | NP_001341831.1:p.Gln450Ter | |
| NM_001354903.1:c.1318C>T | NP_001341832.1:p.Gln440Ter | |
| NM_001354904.1:c.1243C>T | NP_001341833.1:p.Gln415Ter | |
| NM_001354905.1:c.1141C>T | NP_001341834.1:p.Gln381Ter | |
| NM_001354906.1:c.772C>T | NP_001341835.1:p.Gln258Ter | |
| NM_000038.6:c.1621C>T MANE Select | NP_000029.2:p.Gln541Ter | |
| NM_001127510.3:c.1621C>T | NP_001120982.1:p.Gln541Ter | |
| NM_001127511.3:c.1567C>T | NP_001120983.2:p.Gln523Ter | |
| NM_001354895.2:c.1621C>T | NP_001341824.1:p.Gln541Ter | |
| NM_001354896.2:c.1675C>T | NP_001341825.1:p.Gln559Ter | |
| NM_001354897.2:c.1651C>T | NP_001341826.1:p.Gln551Ter | |
| NM_001354898.2:c.1546C>T | NP_001341827.1:p.Gln516Ter | |
| NM_001354899.2:c.1537C>T | NP_001341828.1:p.Gln513Ter | |
| NM_001354900.2:c.1498C>T | NP_001341829.1:p.Gln500Ter | |
| NM_001354901.2:c.1444C>T | NP_001341830.1:p.Gln482Ter | |
| NM_001354902.2:c.1348C>T | NP_001341831.1:p.Gln450Ter | |
| NM_001354903.2:c.1318C>T | NP_001341832.1:p.Gln440Ter | |
| NM_001354904.2:c.1243C>T | NP_001341833.1:p.Gln415Ter | |
| NM_001354905.2:c.1141C>T | NP_001341834.1:p.Gln381Ter | |
| NM_001354906.2:c.772C>T | NP_001341835.1:p.Gln258Ter |