Linked Data
ClinVar Variation Id:
1422535
ClinVar RCV Id:
RCV001926171
dbSNP Id:
rs2138474233
gnomAD v4:
14-34713261-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.34713261T>C , CM000676.2:g.34713261T>C | GRCh38 |
| NC_000014.8:g.35182467T>C , CM000676.1:g.35182467T>C | GRCh37 |
| NC_000014.7:g.34252218T>C | NCBI36 |
| NG_012740.1:g.6563A>G , LRG_213:g.6563A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298159.11:c.304A>G MANE Select | ENSP00000298159.6:p.Ile102Val | |
| ENST00000341223.8:c.304A>G | ENSP00000340635.3:p.Ile102Val | |
| ENST00000672163.1:c.304A>G | ENSP00000500375.1:p.Ile102Val | |
| ENST00000672517.1:c.304A>G | ENSP00000500532.1:p.Ile102Val | |
| ENST00000673315.1:c.253A>G | ENSP00000500002.1:p.Ile85Val | |
| ENST00000298159.10:c.304A>G | ENSP00000298159.6:p.Ile102Val | |
| ENST00000341223.7:c.304A>G | ENSP00000340635.3:p.Ile102Val | |
| ENST00000422678.2:c.169-125A>G | ENSP00000409326.2:n.169-125A>G | |
| ENST00000554470.5:c.58-125A>G | ENSP00000450862.1:n.58-125A>G | |
| ENST00000555765.5:c.253A>G | ENSP00000452451.1:p.Ile85Val | |
| ENST00000556161.1:c.253A>G | ENSP00000452188.1:p.Ile85Val | |
| NM_001243645.1:c.253A>G | NP_001230574.1:p.Ile85Val | |
| NM_021914.7:c.304A>G | NP_068733.1:p.Ile102Val | |
| NM_138638.4:c.304A>G , LRG_213t1:c.304A>G | NP_619579.1:p.Ile102Val | |
| NR_028130.1:n.452-125A>G | ||
| NR_028131.1:n.341-125A>G | ||
| XM_011536363.1:c.253A>G | XP_011534665.1:p.Ile85Val | |
| XM_011536363.3:c.253A>G | XP_011534665.1:p.Ile85Val | |
| NM_138638.5:c.304A>G MANE Select | NP_619579.1:p.Ile102Val | |
| NM_001243645.2:c.253A>G | NP_001230574.1:p.Ile85Val | |
| NM_021914.8:c.304A>G | NP_068733.1:p.Ile102Val | |
| NR_028130.2:n.222-125A>G | ||
| NR_028131.2:n.111-125A>G |