Linked Data
ClinVar Variation Id:
324525
ClinVar RCV Id:
RCV000270326
RCV000271110
RCV000332377
RCV000362158
RCV000555752
RCV002280115
RCV004537817
dbSNP Id:
rs377277110
ExAC:
17:62026120 C / T
gnomAD v2:
17-62026120-C-T
gnomAD v3:
17-63948760-C-T
gnomAD v4:
17-63948760-C-T
COSMIC:
COSM2795760
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63948760C>T , CM000679.2:g.63948760C>T | GRCh38 |
| NC_000017.10:g.62026120C>T , CM000679.1:g.62026120C>T | GRCh37 |
| NC_000017.9:g.59379852C>T | NCBI36 |
| NG_011699.1:g.29159G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.2995G>A MANE Select | ENSP00000396320.1:p.Val999Met | |
| ENST00000578147.5:c.2995G>A | ENSP00000463963.1:p.Val999Met | |
| ENST00000584310.1:n.318G>A | ||
| NM_000334.4:c.2995G>A MANE Select | NP_000325.4:p.Val999Met | |
| XM_005257566.3:c.2995G>A | XP_005257623.1:p.Val999Met |