Linked Data
ClinVar Variation Id:
584699
dbSNP Id:
rs866928399
gnomAD v2:
7-55268929-C-T
gnomAD v4:
7-55201236-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55201236C>T , CM000669.2:g.55201236C>T | GRCh38 |
| NC_000007.13:g.55268929C>T , CM000669.1:g.55268929C>T | GRCh37 |
| NC_000007.12:g.55236423C>T | NCBI36 |
| NG_007726.3:g.187205C>T , LRG_304:g.187205C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450046.2:c.2836C>T | ENSP00000413354.2:p.Arg946Cys | |
| ENST00000700145.1:c.900-4111C>T | ||
| ENST00000700146.1:n.739C>T | ||
| ENST00000700147.1:n.664C>T | ||
| ENST00000275493.7:c.2995C>T MANE Select | ENSP00000275493.2:p.Arg999Cys | |
| ENST00000275493.6:c.2995C>T | ENSP00000275493.2:p.Arg999Cys | |
| ENST00000442591.5:c.*28+28308C>T | ENSP00000410031.1:n.*28+28308C>T | |
| ENST00000454757.6:c.2860C>T | ENSP00000395243.3:p.Arg954Cys | |
| ENST00000455089.5:c.2860C>T | ENSP00000415559.1:p.Arg954Cys | |
| NM_005228.3:c.2995C>T , LRG_304t1:c.2995C>T | NP_005219.2:p.Arg999Cys | |
| NM_001346897.1:c.2860C>T | NP_001333826.1:p.Arg954Cys | |
| NM_001346898.1:c.2995C>T | NP_001333827.1:p.Arg999Cys | |
| NM_001346899.1:c.2860C>T | NP_001333828.1:p.Arg954Cys | |
| NM_001346900.1:c.2836C>T | NP_001333829.1:p.Arg946Cys | |
| NM_001346941.1:c.2194C>T | NP_001333870.1:p.Arg732Cys | |
| NM_005228.4:c.2995C>T | NP_005219.2:p.Arg999Cys | |
| NM_005228.5:c.2995C>T MANE Select | NP_005219.2:p.Arg999Cys | |
| NM_001346897.2:c.2860C>T | NP_001333826.1:p.Arg954Cys | |
| NM_001346898.2:c.2995C>T | NP_001333827.1:p.Arg999Cys | |
| NM_001346900.2:c.2836C>T | NP_001333829.1:p.Arg946Cys | |
| NM_001346941.2:c.2194C>T | NP_001333870.1:p.Arg732Cys | |
| NM_001346899.2:c.2860C>T | NP_001333828.1:p.Arg954Cys |