Linked Data
ClinVar Variation Id:
1224
ClinVar RCV Id:
RCV000001283
dbSNP Id:
rs121918223
ExAC:
20:18523739 C / T
gnomAD v2:
20-18523739-C-T
gnomAD v3:
20-18543095-C-T
gnomAD v4:
20-18543095-C-T
COSMIC:
COSM1024912
PubMed:
PMID:19561605
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.18543095C>T , CM000682.2:g.18543095C>T | GRCh38 |
| NC_000020.10:g.18523739C>T , CM000682.1:g.18523739C>T | GRCh37 |
| NC_000020.9:g.18471739C>T | NCBI36 |
| NG_016281.1:g.40552C>T | |
| NG_016281.2:g.40614C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336714.8:c.1588C>T | ENSP00000338844.3:p.Arg530Trp | |
| ENST00000377465.6:c.1588C>T | ENSP00000366685.1:p.Arg530Trp | |
| ENST00000643747.1:c.1534C>T | ENSP00000496460.1:p.Arg512Trp | |
| ENST00000650089.1:c.1588C>T MANE Select | ENSP00000497473.1:p.Arg530Trp | |
| ENST00000262544.6:c.1588C>T | ENSP00000262544.2:p.Arg530Trp | |
| ENST00000336714.7:c.1588C>T | ENSP00000338844.3:p.Arg530Trp | |
| ENST00000377465.5:c.1588C>T | ENSP00000366685.1:p.Arg530Trp | |
| ENST00000377475.7:c.1588C>T | ENSP00000366695.3:p.Arg530Trp | |
| ENST00000422877.1:c.112C>T | ENSP00000409882.1:p.Arg38Trp | |
| NM_001172745.1:c.1588C>T | NP_001166216.1:p.Arg530Trp | |
| NM_001172746.1:c.1534C>T | NP_001166217.1:p.Arg512Trp | |
| NM_006363.4:c.1588C>T | NP_006354.2:p.Arg530Trp | |
| NM_032985.4:c.1588C>T | NP_116780.1:p.Arg530Trp | |
| NM_032986.3:c.1588C>T | NP_116781.1:p.Arg530Trp | |
| NM_001172745.2:c.1588C>T | NP_001166216.1:p.Arg530Trp | |
| NM_001172746.2:c.1534C>T | NP_001166217.1:p.Arg512Trp | |
| NM_006363.6:c.1588C>T MANE Select | NP_006354.2:p.Arg530Trp | |
| NM_032985.5:c.1588C>T | NP_116780.1:p.Arg530Trp | |
| NM_032986.4:c.1588C>T | NP_116781.1:p.Arg530Trp | |
| XM_017027593.1:c.1588C>T | XP_016883082.1:p.Arg530Trp | |
| NM_001172745.3:c.1588C>T | NP_001166216.1:p.Arg530Trp | |
| NM_001172746.3:c.1534C>T | NP_001166217.1:p.Arg512Trp | |
| NM_032985.6:c.1588C>T | NP_116780.1:p.Arg530Trp | |
| NM_032986.5:c.1588C>T | NP_116781.1:p.Arg530Trp |