Linked Data
ClinVar Variation Id:
35804
ClinVar RCV Id:
RCV000029456
RCV000226274
RCV000379233
RCV000349095
RCV000399401
RCV000402310
RCV000620134
RCV001699183
RCV003914865
dbSNP Id:
rs147250678
ExAC:
3:8787514 C / T
gnomAD v2:
3-8787514-C-T
gnomAD v3:
3-8745828-C-T
gnomAD v4:
3-8745828-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745828C>T , CM000665.2:g.8745828C>T | GRCh38 |
| NC_000003.11:g.8787514C>T , CM000665.1:g.8787514C>T | GRCh37 |
| NC_000003.10:g.8762514C>T | NCBI36 |
| NG_008797.2:g.17019C>T , LRG_329:g.17019C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343849.3:c.417C>T MANE Select | ENSP00000341940.2:p.Val139= | |
| ENST00000343849.2:c.417C>T | ENSP00000341940.2:p.Val139= | |
| ENST00000397368.2:c.417C>T | ENSP00000380525.2:p.Val139= | |
| ENST00000472766.1:n.155+11838C>T | ||
| NM_001234.4:c.417C>T | NP_001225.1:p.Val139= | |
| NM_033337.2:c.417C>T , LRG_329t1:c.417C>T | NP_203123.1:p.Val139= | |
| NM_001234.5:c.417C>T | NP_001225.1:p.Val139= | |
| NM_033337.3:c.417C>T MANE Select | NP_203123.1:p.Val139= |