Linked Data
ClinVar Variation Id:
3033858
ClinVar RCV Id:
RCV003911836
dbSNP Id:
rs184197499
ExAC:
4:88533249 C / T
gnomAD v2:
4-88533249-C-T
gnomAD v3:
4-87612097-C-T
gnomAD v4:
4-87612097-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87612097C>T , CM000666.2:g.87612097C>T | GRCh38 |
| NC_000004.11:g.88533249C>T , CM000666.1:g.88533249C>T | GRCh37 |
| NC_000004.10:g.88752273C>T | NCBI36 |
| NG_011595.1:g.8569C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651931.1:c.52-8C>T MANE Select | ENSP00000498766.1:n.52-8C>T | |
| ENST00000282478.7:c.52-8C>T | ENSP00000282478.7:n.52-8C>T | |
| ENST00000399271.5:c.52-8C>T | ENSP00000382213.1:n.52-8C>T | |
| NM_014208.3:c.52-8C>T MANE Select | NP_055023.2:n.52-8C>T |