Linked Data
ClinVar Variation Id:
433679
ClinVar RCV Id:
RCV000502714
dbSNP Id:
rs1554088797
gnomAD v4:
5-112843560-G-T
COSMIC:
COSM4166504
PubMed:
PMID:23085758
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843560G>T , CM000667.2:g.112843560G>T | GRCh38 |
| NC_000005.9:g.112179257G>T , CM000667.1:g.112179257G>T | GRCh37 |
| NC_000005.8:g.112207156G>T | NCBI36 |
| NG_008481.4:g.156040G>T , LRG_130:g.156040G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.8020G>T | ENSP00000473355.2:p.Asp2674Tyr | |
| ENST00000505350.2:c.*7972G>T | ENSP00000481752.1:n.*7972G>T | |
| ENST00000507379.6:c.7912G>T | ENSP00000423224.2:p.Asp2638Tyr | |
| ENST00000509732.6:c.7966G>T | ENSP00000426541.2:p.Asp2656Tyr | |
| ENST00000512211.7:c.7966G>T | ENSP00000423828.3:p.Asp2656Tyr | |
| ENST00000257430.9:c.7966G>T MANE Select | ENSP00000257430.4:p.Asp2656Tyr | |
| ENST00000257430.8:c.7966G>T | ENSP00000257430.4:p.Asp2656Tyr | |
| ENST00000508376.6:c.7966G>T | ENSP00000427089.2:p.Asp2656Tyr | |
| ENST00000520401.1:c.231-13089G>T | ||
| NM_000038.5:c.7966G>T | NP_000029.2:p.Asp2656Tyr | |
| NM_001127510.2:c.7966G>T | NP_001120982.1:p.Asp2656Tyr | |
| NM_001127511.2:c.7912G>T | NP_001120983.2:p.Asp2638Tyr | |
| NM_001354895.1:c.7966G>T | NP_001341824.1:p.Asp2656Tyr | |
| NM_001354896.1:c.8020G>T | NP_001341825.1:p.Asp2674Tyr | |
| NM_001354897.1:c.7996G>T | NP_001341826.1:p.Asp2666Tyr | |
| NM_001354898.1:c.7891G>T | NP_001341827.1:p.Asp2631Tyr | |
| NM_001354899.1:c.7882G>T | NP_001341828.1:p.Asp2628Tyr | |
| NM_001354900.1:c.7843G>T | NP_001341829.1:p.Asp2615Tyr | |
| NM_001354901.1:c.7789G>T | NP_001341830.1:p.Asp2597Tyr | |
| NM_001354902.1:c.7693G>T | NP_001341831.1:p.Asp2565Tyr | |
| NM_001354903.1:c.7663G>T | NP_001341832.1:p.Asp2555Tyr | |
| NM_001354904.1:c.7588G>T | NP_001341833.1:p.Asp2530Tyr | |
| NM_001354905.1:c.7486G>T | NP_001341834.1:p.Asp2496Tyr | |
| NM_001354906.1:c.7117G>T | NP_001341835.1:p.Asp2373Tyr | |
| NM_000038.6:c.7966G>T MANE Select | NP_000029.2:p.Asp2656Tyr | |
| NM_001127510.3:c.7966G>T | NP_001120982.1:p.Asp2656Tyr | |
| NM_001127511.3:c.7912G>T | NP_001120983.2:p.Asp2638Tyr | |
| NM_001354895.2:c.7966G>T | NP_001341824.1:p.Asp2656Tyr | |
| NM_001354896.2:c.8020G>T | NP_001341825.1:p.Asp2674Tyr | |
| NM_001354897.2:c.7996G>T | NP_001341826.1:p.Asp2666Tyr | |
| NM_001354898.2:c.7891G>T | NP_001341827.1:p.Asp2631Tyr | |
| NM_001354899.2:c.7882G>T | NP_001341828.1:p.Asp2628Tyr | |
| NM_001354900.2:c.7843G>T | NP_001341829.1:p.Asp2615Tyr | |
| NM_001354901.2:c.7789G>T | NP_001341830.1:p.Asp2597Tyr | |
| NM_001354902.2:c.7693G>T | NP_001341831.1:p.Asp2565Tyr | |
| NM_001354903.2:c.7663G>T | NP_001341832.1:p.Asp2555Tyr | |
| NM_001354904.2:c.7588G>T | NP_001341833.1:p.Asp2530Tyr | |
| NM_001354905.2:c.7486G>T | NP_001341834.1:p.Asp2496Tyr | |
| NM_001354906.2:c.7117G>T | NP_001341835.1:p.Asp2373Tyr |