Linked Data
ClinVar Variation Id:
193069
dbSNP Id:
rs794726880
gnomAD v3:
17-42536426-G-A
gnomAD v4:
17-42536426-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536426G>A , CM000679.2:g.42536426G>A | GRCh38 |
| NC_000017.10:g.40688444G>A , CM000679.1:g.40688444G>A | GRCh37 |
| NC_000017.9:g.37941970G>A | NCBI36 |
| NG_011552.1:g.5494G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.154G>A MANE Select | ENSP00000225927.1:p.Val52Met | |
| ENST00000225927.6:c.154G>A | ENSP00000225927.1:p.Val52Met | |
| NM_000263.3:c.154G>A | NP_000254.2:p.Val52Met | |
| XM_024450771.1:c.154G>A | XP_024306539.1:p.Val52Met | |
| NM_000263.4:c.154G>A MANE Select | NP_000254.2:p.Val52Met |