Linked Data
ClinVar Variation Id:
254143
ClinVar RCV Id:
RCV000256393
dbSNP Id:
rs886037891
PubMed:
PMID:27900366
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55155917G>T , CM000669.2:g.55155917G>T | GRCh38 |
| NC_000007.13:g.55223610G>T , CM000669.1:g.55223610G>T | GRCh37 |
| NC_000007.12:g.55191104G>T | NCBI36 |
| NG_007726.3:g.141886G>T , LRG_304:g.141886G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450046.2:c.818G>T | ENSP00000413354.2:p.Cys273Phe | |
| ENST00000700144.1:n.1167G>T | ||
| ENST00000344576.7:c.977G>T | ENSP00000345973.2:p.Cys326Phe | |
| ENST00000275493.7:c.977G>T MANE Select | ENSP00000275493.2:p.Cys326Phe | |
| ENST00000275493.6:c.977G>T | ENSP00000275493.2:p.Cys326Phe | |
| ENST00000342916.7:c.977G>T | ENSP00000342376.3:p.Cys326Phe | |
| ENST00000344576.6:c.977G>T | ENSP00000345973.2:p.Cys326Phe | |
| ENST00000420316.6:c.977G>T | ENSP00000413843.2:p.Cys326Phe | |
| ENST00000442591.5:c.977G>T | ENSP00000410031.1:p.Cys326Phe | |
| ENST00000454757.6:c.842G>T | ENSP00000395243.3:p.Cys281Phe | |
| ENST00000455089.5:c.842G>T | ENSP00000415559.1:p.Cys281Phe | |
| NM_005228.3:c.977G>T , LRG_304t1:c.977G>T | NP_005219.2:p.Cys326Phe | |
| NM_201282.1:c.977G>T | NP_958439.1:p.Cys326Phe | |
| NM_201283.1:c.977G>T | NP_958440.1:p.Cys326Phe | |
| NM_201284.1:c.977G>T | NP_958441.1:p.Cys326Phe | |
| NM_001346897.1:c.842G>T | NP_001333826.1:p.Cys281Phe | |
| NM_001346898.1:c.977G>T | NP_001333827.1:p.Cys326Phe | |
| NM_001346899.1:c.842G>T | NP_001333828.1:p.Cys281Phe | |
| NM_001346900.1:c.818G>T | NP_001333829.1:p.Cys273Phe | |
| NM_001346941.1:c.176G>T | NP_001333870.1:p.Cys59Phe | |
| NM_005228.4:c.977G>T | NP_005219.2:p.Cys326Phe | |
| NM_005228.5:c.977G>T MANE Select | NP_005219.2:p.Cys326Phe | |
| NM_001346897.2:c.842G>T | NP_001333826.1:p.Cys281Phe | |
| NM_001346898.2:c.977G>T | NP_001333827.1:p.Cys326Phe | |
| NM_001346900.2:c.818G>T | NP_001333829.1:p.Cys273Phe | |
| NM_001346941.2:c.176G>T | NP_001333870.1:p.Cys59Phe | |
| NM_201282.2:c.977G>T | NP_958439.1:p.Cys326Phe | |
| NM_201284.2:c.977G>T | NP_958441.1:p.Cys326Phe | |
| NM_001346899.2:c.842G>T | NP_001333828.1:p.Cys281Phe | |
| NM_201283.2:c.977G>T | NP_958440.1:p.Cys326Phe |