Linked Data
ClinVar Variation Id:
228355
dbSNP Id:
rs200089714
ExAC:
11:68673577 C / T
gnomAD v2:
11-68673577-C-T
gnomAD v3:
11-68906109-C-T
gnomAD v4:
11-68906109-C-T
PubMed:
PMID:14506069
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68906109C>T , CM000673.2:g.68906109C>T | GRCh38 |
| NC_000011.9:g.68673577C>T , CM000673.1:g.68673577C>T | GRCh37 |
| NC_000011.8:g.68430153C>T | NCBI36 |
| NG_007976.1:g.7259C>T , LRG_250:g.7259C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.127C>T MANE Select | ENSP00000255078.4:p.Arg43Ter | |
| ENST00000539224.2:c.90C>T | ||
| ENST00000674583.1:c.90C>T | ||
| ENST00000674597.1:c.41C>T | ||
| ENST00000674729.1:n.70C>T | ||
| ENST00000674955.1:c.127C>T | ENSP00000502463.1:p.Arg43Ter | |
| ENST00000675142.1:n.90C>T | ||
| ENST00000675469.1:c.41C>T | ||
| ENST00000675615.1:c.127C>T | ENSP00000502413.1:p.Arg43Ter | |
| ENST00000675674.1:n.90C>T | ||
| ENST00000675800.1:n.72C>T | ||
| ENST00000675873.1:c.90C>T | ||
| ENST00000676173.1:n.167C>T | ||
| ENST00000676228.1:c.127C>T | ENSP00000502375.1:p.Arg43Ter | |
| ENST00000255078.7:c.127C>T | ENSP00000255078.3:p.Arg43Ter | |
| ENST00000539224.1:c.127C>T | ENSP00000440465.1:p.Arg43Ter | |
| ENST00000544541.1:c.87-2036C>T | ENSP00000443343.1:n.87-2036C>T | |
| ENST00000545146.1:c.127C>T | ENSP00000456366.1:p.Arg43Ter | |
| NM_002180.2:c.127C>T , LRG_250t1:c.127C>T | NP_002171.2:p.Arg43Ter | |
| XM_005273974.2:c.-889C>T | XP_005274031.1:n.-889C>T | |
| XM_005273976.1:c.127C>T | XP_005274033.1:p.Arg43Ter | |
| XR_247198.1:n.229C>T | ||
| XR_949903.1:n.229C>T | ||
| XM_005273976.2:c.127C>T | XP_005274033.1:p.Arg43Ter | |
| XM_017017669.2:c.-787C>T | XP_016873158.1:n.-787C>T | |
| XM_017017671.2:c.127C>T | XP_016873160.1:p.Arg43Ter | |
| XR_949903.3:n.225C>T | ||
| NM_002180.3:c.127C>T MANE Select | NP_002171.2:p.Arg43Ter |