Linked Data
ClinVar Variation Id:
2136540
ClinVar RCV Id:
RCV003060114
dbSNP Id:
rs1140476
gnomAD v4:
7-55200396-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55200396C>T , CM000669.2:g.55200396C>T | GRCh38 |
| NC_000007.13:g.55268089C>T , CM000669.1:g.55268089C>T | GRCh37 |
| NC_000007.12:g.55235583C>T | NCBI36 |
| NG_007726.3:g.186365C>T , LRG_304:g.186365C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2770C>T | ENSP00000413354.2:p.Arg924Cys | |
| ENST00000700145.1:c.900-4951C>T | ||
| ENST00000700146.1:n.673C>T | ||
| ENST00000275493.7:c.2929C>T MANE Select | ENSP00000275493.2:p.Arg977Cys | |
| ENST00000275493.6:c.2929C>T | ENSP00000275493.2:p.Arg977Cys | |
| ENST00000442591.5:c.*28+27468C>T | ENSP00000410031.1:n.*28+27468C>T | |
| ENST00000454757.6:c.2794C>T | ENSP00000395243.3:p.Arg932Cys | |
| ENST00000455089.5:c.2794C>T | ENSP00000415559.1:p.Arg932Cys | |
| ENST00000485503.1:n.259C>T | ||
| NM_005228.3:c.2929C>T , LRG_304t1:c.2929C>T | NP_005219.2:p.Arg977Cys | |
| NM_001346897.1:c.2794C>T | NP_001333826.1:p.Arg932Cys | |
| NM_001346898.1:c.2929C>T | NP_001333827.1:p.Arg977Cys | |
| NM_001346899.1:c.2794C>T | NP_001333828.1:p.Arg932Cys | |
| NM_001346900.1:c.2770C>T | NP_001333829.1:p.Arg924Cys | |
| NM_001346941.1:c.2128C>T | NP_001333870.1:p.Arg710Cys | |
| NM_005228.4:c.2929C>T | NP_005219.2:p.Arg977Cys | |
| NM_005228.5:c.2929C>T MANE Select | NP_005219.2:p.Arg977Cys | |
| NM_001346897.2:c.2794C>T | NP_001333826.1:p.Arg932Cys | |
| NM_001346898.2:c.2929C>T | NP_001333827.1:p.Arg977Cys | |
| NM_001346900.2:c.2770C>T | NP_001333829.1:p.Arg924Cys | |
| NM_001346941.2:c.2128C>T | NP_001333870.1:p.Arg710Cys | |
| NM_001346899.2:c.2794C>T | NP_001333828.1:p.Arg932Cys |