Linked Data
ClinVar Variation Id:
1434678
ClinVar RCV Id:
RCV001962509
dbSNP Id:
rs1474170437
gnomAD v3:
7-55191724-G-T
gnomAD v4:
7-55191724-G-T
COSMIC:
COSM6237886
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55191724G>T , CM000669.2:g.55191724G>T | GRCh38 |
| NC_000007.13:g.55259417G>T , CM000669.1:g.55259417G>T | GRCh37 |
| NC_000007.12:g.55226911G>T | NCBI36 |
| NG_007726.3:g.177693G>T , LRG_304:g.177693G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2316G>T | ENSP00000413354.2:p.Met772Ile | |
| ENST00000700145.1:c.824G>T | ||
| ENST00000275493.7:c.2475G>T MANE Select | ENSP00000275493.2:p.Met825Ile | |
| ENST00000275493.6:c.2475G>T | ENSP00000275493.2:p.Met825Ile | |
| ENST00000442591.5:c.*28+18796G>T | ENSP00000410031.1:n.*28+18796G>T | |
| ENST00000454757.6:c.2340G>T | ENSP00000395243.3:p.Met780Ile | |
| ENST00000455089.5:c.2340G>T | ENSP00000415559.1:p.Met780Ile | |
| NM_005228.3:c.2475G>T , LRG_304t1:c.2475G>T | NP_005219.2:p.Met825Ile | |
| NM_001346897.1:c.2340G>T | NP_001333826.1:p.Met780Ile | |
| NM_001346898.1:c.2475G>T | NP_001333827.1:p.Met825Ile | |
| NM_001346899.1:c.2340G>T | NP_001333828.1:p.Met780Ile | |
| NM_001346900.1:c.2316G>T | NP_001333829.1:p.Met772Ile | |
| NM_001346941.1:c.1674G>T | NP_001333870.1:p.Met558Ile | |
| NM_005228.4:c.2475G>T | NP_005219.2:p.Met825Ile | |
| NM_005228.5:c.2475G>T MANE Select | NP_005219.2:p.Met825Ile | |
| NM_001346897.2:c.2340G>T | NP_001333826.1:p.Met780Ile | |
| NM_001346898.2:c.2475G>T | NP_001333827.1:p.Met825Ile | |
| NM_001346900.2:c.2316G>T | NP_001333829.1:p.Met772Ile | |
| NM_001346941.2:c.1674G>T | NP_001333870.1:p.Met558Ile | |
| NM_001346899.2:c.2340G>T | NP_001333828.1:p.Met780Ile |