Linked Data
ClinVar Variation Id:
907378
ClinVar RCV Id:
RCV001157177
dbSNP Id:
rs185818957
ExAC:
5:147211183 C / T
gnomAD v2:
5-147211183-C-T
gnomAD v3:
5-147831620-C-T
gnomAD v4:
5-147831620-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.147831620C>T , CM000667.2:g.147831620C>T | GRCh38 |
| NC_000005.9:g.147211183C>T , CM000667.1:g.147211183C>T | GRCh37 |
| NC_000005.8:g.147191376C>T | NCBI36 |
| NG_008356.2:g.12612G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296695.10:c.-43G>A MANE Select | ENSP00000296695.5:n.-43G>A | |
| ENST00000296695.9:c.-43G>A | ENSP00000296695.5:n.-43G>A | |
| ENST00000510027.2:c.-43G>A | ENSP00000427376.1:n.-43G>A | |
| NM_003122.4:c.-43G>A | NP_003113.2:n.-43G>A | |
| NM_001354966.1:c.-43G>A | NP_001341895.1:n.-43G>A | |
| NM_001354966.2:c.-43G>A | NP_001341895.1:n.-43G>A | |
| NM_001379610.1:c.-43G>A MANE Select | NP_001366539.1:n.-43G>A | |
| NM_003122.5:c.-43G>A | NP_003113.2:n.-43G>A |