Linked Data
ClinVar Variation Id:
2103
dbSNP Id:
rs121434364
ExAC:
6:158613139 C / T
gnomAD v2:
6-158613139-C-T
gnomAD v3:
6-158192107-C-T
gnomAD v4:
6-158192107-C-T
PubMed:
PMID:15220921
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158192107C>T , CM000668.2:g.158192107C>T | GRCh38 |
| NC_000006.11:g.158613139C>T , CM000668.1:g.158613139C>T | GRCh37 |
| NC_000006.10:g.158533127C>T | NCBI36 |
| NG_011758.1:g.28761C>T , LRG_469:g.28761C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684993.1:n.225C>T | ||
| ENST00000689018.1:n.41-1103C>T | ||
| ENST00000689809.1:c.166C>T | ENSP00000510752.1:p.Arg56Ter | |
| ENST00000691867.1:c.166C>T | ENSP00000510706.1:p.Arg56Ter | |
| ENST00000607778.2:c.166C>T MANE Select | ENSP00000476100.1:p.Arg56Ter | |
| ENST00000648328.1:c.*131C>T | ENSP00000497338.1:n.*131C>T | |
| ENST00000607778.1:c.166C>T | ENSP00000476100.1:p.Arg56Ter | |
| NM_207118.2:c.166C>T , LRG_469t1:c.166C>T | NP_997001.1:p.Arg56Ter | |
| XM_017010862.1:c.196C>T | XP_016866351.1:p.Arg66Ter | |
| NM_207118.3:c.166C>T MANE Select | NP_997001.1:p.Arg56Ter |