Linked Data
ClinVar Variation Id:
324972
ClinVar RCV Id:
RCV000326700
dbSNP Id:
rs886053370
gnomAD v2:
17-71202387-G-A
gnomAD v3:
17-73206248-G-A
gnomAD v4:
17-73206248-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73206248G>A , CM000679.2:g.73206248G>A | GRCh38 |
| NC_000017.10:g.71202387G>A , CM000679.1:g.71202387G>A | GRCh37 |
| NC_000017.9:g.68713982G>A | NCBI36 |
| NG_008971.1:g.18215G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299886.9:c.2605G>A MANE Select | ENSP00000299886.4:p.Val869Met | |
| ENST00000299886.8:c.2605G>A | ENSP00000299886.4:p.Val869Met | |
| ENST00000438720.7:c.2603G>A | ||
| ENST00000577238.1:n.311G>A | ||
| ENST00000580271.5:n.205G>A | ||
| ENST00000582512.5:c.161G>A | ||
| ENST00000582672.1:c.90G>A | ||
| ENST00000618996.4:c.2605G>A | ENSP00000479450.1:p.Val869Met | |
| NM_018714.2:c.2605G>A | NP_061184.1:p.Val869Met | |
| NM_018714.3:c.2605G>A MANE Select | NP_061184.1:p.Val869Met |