Linked Data
ClinVar Variation Id:
8790
ClinVar RCV Id:
RCV000009335
dbSNP Id:
rs121434642
PubMed:
PMID:12812979
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47235308G>T , CM000673.2:g.47235308G>T | GRCh38 |
| NC_000011.9:g.47256859G>T , CM000673.1:g.47256859G>T | GRCh37 |
| NC_000011.8:g.47213435G>T | NCBI36 |
| NG_009365.1:g.25367G>T , LRG_467:g.25367G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256996.9:c.919G>T MANE Select | ENSP00000256996.4:p.Asp307Tyr | |
| ENST00000256996.8:c.919G>T | ENSP00000256996.3:p.Asp307Tyr | |
| ENST00000378600.7:c.457-2529G>T | ENSP00000367863.3:n.457-2529G>T | |
| ENST00000378601.7:c.*6G>T | ENSP00000367864.3:n.*6G>T | |
| ENST00000378603.7:c.727G>T | ENSP00000367866.3:p.Asp243Tyr | |
| ENST00000612309.4:n.2368G>T | ||
| ENST00000614394.1:n.309G>T | ||
| ENST00000616278.4:c.595G>T | ENSP00000478411.1:n.595G>T | |
| ENST00000617022.4:n.1554-2529G>T | ||
| ENST00000617847.4:c.848G>T | ||
| ENST00000620515.1:n.85G>T | ||
| NM_000107.2:c.919G>T , LRG_467t1:c.919G>T | NP_000098.1:p.Asp307Tyr | |
| NM_001300734.1:c.457-2529G>T | NP_001287663.1:n.457-2529G>T | |
| XR_242780.3:n.909G>T | ||
| XR_242780.4:n.909G>T | ||
| NM_000107.3:c.919G>T MANE Select | NP_000098.1:p.Asp307Tyr | |
| NM_001300734.2:c.457-2529G>T | NP_001287663.1:n.457-2529G>T | |
| NM_001399874.1:c.919G>T | NP_001386803.1:p.Asp307Tyr | |
| NM_001399875.1:c.919G>T | NP_001386804.1:p.Asp307Tyr | |
| NM_001399876.1:c.457-2529G>T | NP_001386805.1:n.457-2529G>T | |
| NM_001399878.1:c.727G>T | NP_001386807.1:p.Asp243Tyr | |
| NR_174610.1:n.1170G>T | ||
| NR_174611.1:n.1148G>T |