Linked Data
ClinVar Variation Id:
936373
ClinVar RCV Id:
RCV001205157
dbSNP Id:
rs745812480
ExAC:
7:55259436 C / T
gnomAD v2:
7-55259436-C-T
gnomAD v4:
7-55191743-C-T
COSMIC:
COSM28286
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55191743C>T , CM000669.2:g.55191743C>T | GRCh38 |
| NC_000007.13:g.55259436C>T , CM000669.1:g.55259436C>T | GRCh37 |
| NC_000007.12:g.55226930C>T | NCBI36 |
| NG_007726.3:g.177712C>T , LRG_304:g.177712C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450046.2:c.2335C>T | ENSP00000413354.2:p.Arg779Cys | |
| ENST00000700145.1:c.843C>T | ||
| ENST00000275493.7:c.2494C>T MANE Select | ENSP00000275493.2:p.Arg832Cys | |
| ENST00000275493.6:c.2494C>T | ENSP00000275493.2:p.Arg832Cys | |
| ENST00000442591.5:c.*28+18815C>T | ENSP00000410031.1:n.*28+18815C>T | |
| ENST00000454757.6:c.2359C>T | ENSP00000395243.3:p.Arg787Cys | |
| ENST00000455089.5:c.2359C>T | ENSP00000415559.1:p.Arg787Cys | |
| NM_005228.3:c.2494C>T , LRG_304t1:c.2494C>T | NP_005219.2:p.Arg832Cys | |
| NM_001346897.1:c.2359C>T | NP_001333826.1:p.Arg787Cys | |
| NM_001346898.1:c.2494C>T | NP_001333827.1:p.Arg832Cys | |
| NM_001346899.1:c.2359C>T | NP_001333828.1:p.Arg787Cys | |
| NM_001346900.1:c.2335C>T | NP_001333829.1:p.Arg779Cys | |
| NM_001346941.1:c.1693C>T | NP_001333870.1:p.Arg565Cys | |
| NM_005228.4:c.2494C>T | NP_005219.2:p.Arg832Cys | |
| NM_005228.5:c.2494C>T MANE Select | NP_005219.2:p.Arg832Cys | |
| NM_001346897.2:c.2359C>T | NP_001333826.1:p.Arg787Cys | |
| NM_001346898.2:c.2494C>T | NP_001333827.1:p.Arg832Cys | |
| NM_001346900.2:c.2335C>T | NP_001333829.1:p.Arg779Cys | |
| NM_001346941.2:c.1693C>T | NP_001333870.1:p.Arg565Cys | |
| NM_001346899.2:c.2359C>T | NP_001333828.1:p.Arg787Cys |