Linked Data
ClinVar Variation Id:
433662
dbSNP Id:
rs1060503288
COSMIC:
COSM18729
PubMed:
PMID:8187091
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839999C>T , CM000667.2:g.112839999C>T | GRCh38 |
| NC_000005.9:g.112175696C>T , CM000667.1:g.112175696C>T | GRCh37 |
| NC_000005.8:g.112203595C>T | NCBI36 |
| NG_008481.4:g.152479C>T , LRG_130:g.152479C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.4459C>T | ENSP00000473355.2:p.Gln1487Ter | |
| ENST00000505350.2:c.*4411C>T | ENSP00000481752.1:n.*4411C>T | |
| ENST00000507379.6:c.4351C>T | ENSP00000423224.2:p.Gln1451Ter | |
| ENST00000509732.6:c.4405C>T | ENSP00000426541.2:p.Gln1469Ter | |
| ENST00000512211.7:c.4405C>T | ENSP00000423828.3:p.Gln1469Ter | |
| ENST00000257430.9:c.4405C>T MANE Select | ENSP00000257430.4:p.Gln1469Ter | |
| ENST00000257430.8:c.4405C>T | ENSP00000257430.4:p.Gln1469Ter | |
| ENST00000508376.6:c.4405C>T | ENSP00000427089.2:p.Gln1469Ter | |
| ENST00000508624.5:c.*3727C>T | ENSP00000424265.1:n.*3727C>T | |
| ENST00000520401.1:c.230+11027C>T | ||
| NM_000038.5:c.4405C>T | NP_000029.2:p.Gln1469Ter | |
| NM_001127510.2:c.4405C>T | NP_001120982.1:p.Gln1469Ter | |
| NM_001127511.2:c.4351C>T | NP_001120983.2:p.Gln1451Ter | |
| NM_001354895.1:c.4405C>T | NP_001341824.1:p.Gln1469Ter | |
| NM_001354896.1:c.4459C>T | NP_001341825.1:p.Gln1487Ter | |
| NM_001354897.1:c.4435C>T | NP_001341826.1:p.Gln1479Ter | |
| NM_001354898.1:c.4330C>T | NP_001341827.1:p.Gln1444Ter | |
| NM_001354899.1:c.4321C>T | NP_001341828.1:p.Gln1441Ter | |
| NM_001354900.1:c.4282C>T | NP_001341829.1:p.Gln1428Ter | |
| NM_001354901.1:c.4228C>T | NP_001341830.1:p.Gln1410Ter | |
| NM_001354902.1:c.4132C>T | NP_001341831.1:p.Gln1378Ter | |
| NM_001354903.1:c.4102C>T | NP_001341832.1:p.Gln1368Ter | |
| NM_001354904.1:c.4027C>T | NP_001341833.1:p.Gln1343Ter | |
| NM_001354905.1:c.3925C>T | NP_001341834.1:p.Gln1309Ter | |
| NM_001354906.1:c.3556C>T | NP_001341835.1:p.Gln1186Ter | |
| NM_000038.6:c.4405C>T MANE Select | NP_000029.2:p.Gln1469Ter | |
| NM_001127510.3:c.4405C>T | NP_001120982.1:p.Gln1469Ter | |
| NM_001127511.3:c.4351C>T | NP_001120983.2:p.Gln1451Ter | |
| NM_001354895.2:c.4405C>T | NP_001341824.1:p.Gln1469Ter | |
| NM_001354896.2:c.4459C>T | NP_001341825.1:p.Gln1487Ter | |
| NM_001354897.2:c.4435C>T | NP_001341826.1:p.Gln1479Ter | |
| NM_001354898.2:c.4330C>T | NP_001341827.1:p.Gln1444Ter | |
| NM_001354899.2:c.4321C>T | NP_001341828.1:p.Gln1441Ter | |
| NM_001354900.2:c.4282C>T | NP_001341829.1:p.Gln1428Ter | |
| NM_001354901.2:c.4228C>T | NP_001341830.1:p.Gln1410Ter | |
| NM_001354902.2:c.4132C>T | NP_001341831.1:p.Gln1378Ter | |
| NM_001354903.2:c.4102C>T | NP_001341832.1:p.Gln1368Ter | |
| NM_001354904.2:c.4027C>T | NP_001341833.1:p.Gln1343Ter | |
| NM_001354905.2:c.3925C>T | NP_001341834.1:p.Gln1309Ter | |
| NM_001354906.2:c.3556C>T | NP_001341835.1:p.Gln1186Ter |