Linked Data
ClinVar Variation Id:
514315
ClinVar RCV Id:
RCV000606111
dbSNP Id:
rs1353505181
gnomAD v2:
10-112404205-C-T
gnomAD v3:
10-110644447-C-T
gnomAD v4:
10-110644447-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110644447C>T , CM000672.2:g.110644447C>T | GRCh38 |
| NC_000010.10:g.112404205C>T , CM000672.1:g.112404205C>T | GRCh37 |
| NC_000010.9:g.112394195C>T | NCBI36 |
| NG_021177.1:g.5051C>T , LRG_382:g.5051C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369519.4:c.-8C>T MANE Select | ENSP00000358532.3:n.-8C>T | |
| ENST00000369519.3:c.-8C>T | ENSP00000358532.3:n.-8C>T | |
| NM_001134363.2:c.-8C>T | NP_001127835.2:n.-8C>T | |
| XM_017016103.2:c.26+1007C>T | XP_016871592.1:n.26+1007C>T | |
| NM_001134363.3:c.-8C>T MANE Select | NP_001127835.2:n.-8C>T |