Linked Data
ClinVar Variation Id:
7589
ClinVar RCV Id:
RCV000008027
dbSNP Id:
rs121909137
PubMed:
PMID:15044642
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16024773G>C , CM000663.2:g.16024773G>C | GRCh38 |
| NC_000001.10:g.16351268G>C , CM000663.1:g.16351268G>C | GRCh37 |
| NC_000001.9:g.16223855G>C | NCBI36 |
| NG_009359.1:g.7783G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000331433.5:c.240G>C MANE Select | ENSP00000332771.4:p.Trp80Cys | |
| ENST00000331433.4:c.240G>C | ENSP00000332771.4:p.Trp80Cys | |
| ENST00000375692.5:c.240G>C | ENSP00000364844.1:p.Trp80Cys | |
| ENST00000439316.6:c.229+845G>C | ENSP00000414445.2:n.229+845G>C | |
| ENST00000464764.5:n.889-86G>C | ||
| ENST00000495784.1:n.398G>C | ||
| NM_001042704.1:c.240G>C | NP_001036169.1:p.Trp80Cys | |
| NM_001257139.1:c.229+845G>C | NP_001244068.1:n.229+845G>C | |
| NM_004070.3:c.240G>C | NP_004061.3:p.Trp80Cys | |
| NM_004070.4:c.240G>C MANE Select | NP_004061.3:p.Trp80Cys | |
| NM_001042704.2:c.240G>C | NP_001036169.1:p.Trp80Cys | |
| NM_001257139.2:c.229+845G>C | NP_001244068.1:n.229+845G>C |