Linked Data
ClinVar Variation Id:
213656
ClinVar RCV Id:
RCV000197510
dbSNP Id:
rs755233280
ExAC:
4:120072131 C / T
gnomAD v2:
4-120072131-C-T
gnomAD v3:
4-119150976-C-T
gnomAD v4:
4-119150976-C-T
COSMIC:
COSM269678
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119150976C>T , CM000666.2:g.119150976C>T | GRCh38 |
| NC_000004.11:g.120072131C>T , CM000666.1:g.120072131C>T | GRCh37 |
| NC_000004.10:g.120291579C>T | NCBI36 |
| NG_029747.1:g.20193C>T , LRG_396:g.20193C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307128.6:c.181C>T MANE Select | ENSP00000306997.6:p.Arg61Cys | |
| ENST00000307128.5:c.181C>T | ENSP00000306997.5:p.Arg61Cys | |
| NM_016599.4:c.181C>T , LRG_396t1:c.181C>T | NP_057683.1:p.Arg61Cys | |
| XM_006714234.2:c.181C>T | XP_006714297.1:p.Arg61Cys | |
| XM_006714234.4:c.181C>T | XP_006714297.1:p.Arg61Cys | |
| NM_016599.5:c.181C>T MANE Select | NP_057683.1:p.Arg61Cys |