Linked Data
ClinVar Variation Id:
1610867
ClinVar RCV Id:
RCV002145589
dbSNP Id:
rs2124988175
gnomAD v4:
3-8745509-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745509C>T , CM000665.2:g.8745509C>T | GRCh38 |
| NC_000003.11:g.8787195C>T , CM000665.1:g.8787195C>T | GRCh37 |
| NC_000003.10:g.8762195C>T | NCBI36 |
| NG_008797.2:g.16700C>T , LRG_329:g.16700C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343849.3:c.115-17C>T MANE Select | ENSP00000341940.2:n.115-17C>T | |
| ENST00000343849.2:c.115-17C>T | ENSP00000341940.2:n.115-17C>T | |
| ENST00000397368.2:c.115-17C>T | ENSP00000380525.2:n.115-17C>T | |
| ENST00000472766.1:n.155+11519C>T | ||
| NM_001234.4:c.115-17C>T | NP_001225.1:n.115-17C>T | |
| NM_033337.2:c.115-17C>T , LRG_329t1:c.115-17C>T | NP_203123.1:n.115-17C>T | |
| NM_001234.5:c.115-17C>T | NP_001225.1:n.115-17C>T | |
| NM_033337.3:c.115-17C>T MANE Select | NP_203123.1:n.115-17C>T |