Linked Data
ClinVar Variation Id:
127830
dbSNP Id:
rs5030834
ExAC:
3:10188328 C / T
gnomAD v2:
3-10188328-C-T
gnomAD v3:
3-10146644-C-T
gnomAD v4:
3-10146644-C-T
COSMIC:
COSM17775
ERepo:
CA020379/MONDO:0008667/078
CIViC:
CA020379
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146644C>T , CM000665.2:g.10146644C>T | GRCh38 |
| NC_000003.11:g.10188328C>T , CM000665.1:g.10188328C>T | GRCh37 |
| NC_000003.10:g.10163328C>T | NCBI36 |
| NG_008212.3:g.10010C>T , LRG_322:g.10010C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*140+8C>T | ENSP00000512434.1:n.*140+8C>T | |
| ENST00000696143.1:c.600-3143C>T | ENSP00000512435.1:n.600-3143C>T | |
| ENST00000696153.1:c.463+8C>T | ENSP00000512444.1:n.463+8C>T | |
| ENST00000256474.3:c.463+8C>T MANE Select | ENSP00000256474.3:n.463+8C>T | |
| ENST00000256474.2:c.463+8C>T | ENSP00000256474.2:n.463+8C>T | |
| ENST00000345392.2:c.341-3143C>T | ENSP00000344757.2:n.341-3143C>T | |
| ENST00000477538.1:n.599+8C>T | ||
| NM_000551.3:c.463+8C>T , LRG_322t1:c.463+8C>T | NP_000542.1:n.463+8C>T | |
| NM_198156.2:c.341-3143C>T | NP_937799.1:n.341-3143C>T | |
| NM_001354723.1:c.*18-3143C>T | NP_001341652.1:n.*18-3143C>T | |
| NM_000551.4:c.463+8C>T MANE Select | NP_000542.1:n.463+8C>T | |
| NM_001354723.2:c.*18-3143C>T | NP_001341652.1:n.*18-3143C>T | |
| NM_198156.3:c.341-3143C>T | NP_937799.1:n.341-3143C>T |