Linked Data
ClinVar Variation Id:
840395
ClinVar RCV Id:
RCV001042369
dbSNP Id:
rs143935056
ExAC:
12:110006609 C / T
gnomAD v2:
12-110006609-C-T
gnomAD v3:
12-109568804-C-T
gnomAD v4:
12-109568804-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109568804C>T , CM000674.2:g.109568804C>T | GRCh38 |
| NC_000012.11:g.110006609C>T , CM000674.1:g.110006609C>T | GRCh37 |
| NC_000012.10:g.108490992C>T | NCBI36 |
| NG_007096.1:g.9694G>A | |
| NG_007702.1:g.110C>T , LRG_156:g.110C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.256G>A MANE Select | ENSP00000445920.1:p.Val86Met | |
| ENST00000420167.6:c.*85G>A | ENSP00000416136.2:n.*85G>A | |
| ENST00000503497.7:c.256G>A | ENSP00000474881.1:p.Val86Met | |
| ENST00000536760.1:n.259G>A | ||
| ENST00000537236.2:c.256G>A | ENSP00000483818.1:p.Val86Met | |
| ENST00000537496.5:c.256G>A | ENSP00000444793.1:p.Val86Met | |
| ENST00000540016.5:c.135-3628G>A | ENSP00000474582.1:n.135-3628G>A | |
| ENST00000541763.6:c.256G>A | ENSP00000474981.1:p.Val86Met | |
| ENST00000542390.5:n.283G>A | ||
| ENST00000544051.5:c.*50G>A | ENSP00000438079.1:n.*50G>A | |
| ENST00000545712.6:c.256G>A | ENSP00000445920.1:p.Val86Met | |
| NM_052845.3:c.256G>A | NP_443077.1:p.Val86Met | |
| NR_038118.1:n.329G>A | ||
| XM_024448961.1:c.256G>A | XP_024304729.1:p.Val86Met | |
| NM_052845.4:c.256G>A MANE Select | NP_443077.1:p.Val86Met | |
| NR_038118.2:n.280G>A |