Linked Data
ClinVar Variation Id:
42356
ClinVar RCV Id:
RCV000035195
RCV000515216
RCV000536927
RCV000663715
RCV000770669
RCV001119299
RCV001119300
RCV001119301
RCV001121320
RCV001121319
RCV001711363
dbSNP Id:
rs377338217
ExAC:
15:48764778 C / T
gnomAD v2:
15-48764778-C-T
gnomAD v3:
15-48472581-C-T
gnomAD v4:
15-48472581-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48472581C>T , CM000677.2:g.48472581C>T | GRCh38 |
| NC_000015.9:g.48764778C>T , CM000677.1:g.48764778C>T | GRCh37 |
| NC_000015.8:g.46552070C>T | NCBI36 |
| NG_008805.2:g.178208G>A , LRG_778:g.178208G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4306G>A | ENSP00000453958.2:p.Val1436Met | |
| ENST00000674301.2:c.4306G>A | ENSP00000501333.2:p.Val1436Met | |
| ENST00000683268.1:n.273G>A | ||
| ENST00000684448.1:n.2980G>A | ||
| ENST00000316623.10:c.4306G>A MANE Select | ENSP00000325527.5:p.Val1436Met | |
| ENST00000316623.9:c.4306G>A | ENSP00000325527.5:p.Val1436Met | |
| ENST00000537463.6:c.*69G>A | ENSP00000440294.2:n.*69G>A | |
| NM_000138.4:c.4306G>A , LRG_778t1:c.4306G>A | NP_000129.3:p.Val1436Met | |
| NM_000138.5:c.4306G>A MANE Select | NP_000129.3:p.Val1436Met |