Linked Data
ClinVar Variation Id:
1393746
ClinVar RCV Id:
RCV001927222
dbSNP Id:
rs972629744
gnomAD v4:
9-134835007-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134835007G>A , CM000671.2:g.134835007G>A | GRCh38 |
| NC_000009.11:g.137726853G>A , CM000671.1:g.137726853G>A | GRCh37 |
| NC_000009.10:g.136866674G>A | NCBI36 |
| NG_008030.1:g.198202G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.5173G>A | ENSP00000360885.4:p.Val1725Met | |
| ENST00000371817.8:c.5173G>A MANE Select | ENSP00000360882.3:p.Val1725Met | |
| ENST00000371817.7:c.5173G>A | ENSP00000360882.3:p.Val1725Met | |
| ENST00000371820.3:c.431G>A | ||
| ENST00000618395.4:c.5173G>A | ENSP00000481360.1:p.Val1725Met | |
| NM_000093.4:c.5173G>A | NP_000084.3:p.Val1725Met | |
| NM_001278074.1:c.5173G>A | NP_001265003.1:p.Val1725Met | |
| NR_103451.2:n.71-14798C>T | ||
| XR_929712.1:n.5857G>A | ||
| XR_929713.1:n.5725G>A | ||
| NM_000093.5:c.5173G>A MANE Select | NP_000084.3:p.Val1725Met |