Linked Data
ClinVar Variation Id:
2493160
ClinVar RCV Id:
RCV004282695
dbSNP Id:
rs778665236
ExAC:
5:148207269 T / A
gnomAD v2:
5-148207269-T-A
gnomAD v3:
5-148827706-T-A
gnomAD v4:
5-148827706-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827706T>A , CM000667.2:g.148827706T>A | GRCh38 |
| NC_000005.9:g.148207269T>A , CM000667.1:g.148207269T>A | GRCh37 |
| NC_000005.8:g.148187462T>A | NCBI36 |
| NG_016421.1:g.6114T>A | |
| NG_016421.2:g.6114T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.875T>A MANE Select | ENSP00000305372.4:p.Val292Asp | |
| ENST00000305988.5:c.875T>A | ENSP00000305372.4:p.Val292Asp | |
| NM_000024.5:c.875T>A | NP_000015.1:p.Val292Asp | |
| NM_000024.6:c.875T>A MANE Select | NP_000015.2:p.Val292Asp |