Linked Data
ClinVar Variation Id:
12507
dbSNP Id:
rs104893809
gnomAD v4:
3-30691504-C-T
PubMed:
PMID:15235604
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30691504C>T , CM000665.2:g.30691504C>T | GRCh38 |
| NC_000003.11:g.30732996C>T , CM000665.1:g.30732996C>T | GRCh37 |
| NC_000003.10:g.30708000C>T | NCBI36 |
| NG_007490.1:g.90003C>T , LRG_779:g.90003C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1609C>T MANE Select | ENSP00000295754.5:p.Arg537Cys | |
| ENST00000672050.1:n.493C>T | ||
| ENST00000672866.1:n.3205C>T | ||
| ENST00000673203.1:n.487C>T | ||
| ENST00000295754.9:c.1609C>T | ENSP00000295754.5:p.Arg537Cys | |
| ENST00000359013.4:c.1684C>T | ENSP00000351905.4:p.Arg562Cys | |
| NM_001024847.2:c.1684C>T , LRG_779t1:c.1684C>T | NP_001020018.1:p.Arg562Cys | |
| NM_003242.5:c.1609C>T | NP_003233.4:p.Arg537Cys | |
| XM_011534043.1:c.1636C>T | XP_011532345.1:p.Arg546Cys | |
| XM_011534044.1:c.1561C>T | XP_011532346.1:p.Arg521Cys | |
| XM_011534045.1:c.1504C>T | XP_011532347.1:p.Arg502Cys | |
| XM_011534043.2:c.1636C>T | XP_011532345.1:p.Arg546Cys | |
| XM_011534045.3:c.1504C>T | XP_011532347.1:p.Arg502Cys | |
| XM_017007106.1:c.1504C>T | XP_016862595.1:p.Arg502Cys | |
| NM_003242.6:c.1609C>T MANE Select | NP_003233.4:p.Arg537Cys |