Linked Data
ClinVar Variation Id:
3830
dbSNP Id:
rs1800556
ExAC:
12:121175678 C / T
gnomAD v2:
12-121175678-C-T
gnomAD v3:
12-120737875-C-T
gnomAD v4:
12-120737875-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120737875C>T , CM000674.2:g.120737875C>T | GRCh38 |
| NC_000012.11:g.121175678C>T , CM000674.1:g.121175678C>T | GRCh37 |
| NC_000012.10:g.119660061C>T | NCBI36 |
| NG_007991.1:g.17108C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242592.9:c.511C>T MANE Select | ENSP00000242592.4:p.Arg171Trp | |
| ENST00000242592.8:c.511C>T | ENSP00000242592.4:p.Arg171Trp | |
| ENST00000411593.2:c.473-174C>T | ENSP00000401045.2:n.473-174C>T | |
| NM_000017.3:c.511C>T | NP_000008.1:p.Arg171Trp | |
| NM_001302554.1:c.473-174C>T | NP_001289483.1:n.473-174C>T | |
| NM_000017.4:c.511C>T MANE Select | NP_000008.1:p.Arg171Trp | |
| NM_001302554.2:c.473-174C>T | NP_001289483.1:n.473-174C>T |