Linked Data
ClinVar Variation Id:
5187
ClinVar RCV Id:
RCV000005496
dbSNP Id:
rs104893611
PubMed:
PMID:11062482
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.130597896G>A , CM000664.2:g.130597896G>A | GRCh38 |
| NC_000002.11:g.131355469G>A , CM000664.1:g.131355469G>A | GRCh37 |
| NC_000002.10:g.131071939G>A | NCBI36 |
| NG_008148.1:g.6614C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000259216.6:c.334C>T MANE Select | ENSP00000259216.5:p.Arg112Cys | |
| ENST00000259216.4:c.334C>T | ENSP00000259216.4:p.Arg112Cys | |
| ENST00000615342.4:c.248-293C>T | ENSP00000480526.1:n.248-293C>T | |
| ENST00000621673.4:c.247+746C>T | ENSP00000480843.1:n.247+746C>T | |
| NM_001270420.1:c.248-293C>T | NP_001257349.1:n.248-293C>T | |
| NM_001270421.1:c.247+746C>T | NP_001257350.1:n.247+746C>T | |
| NM_032545.3:c.334C>T | NP_115934.1:p.Arg112Cys | |
| NM_032545.4:c.334C>T MANE Select | NP_115934.1:p.Arg112Cys | |
| NM_001270420.2:c.248-293C>T | NP_001257349.1:n.248-293C>T | |
| NM_001270421.2:c.247+746C>T | NP_001257350.1:n.247+746C>T |