Linked Data
ClinVar Variation Id:
36111
dbSNP Id:
rs140537304
ExAC:
15:48719896 C / T
gnomAD v2:
15-48719896-C-T
gnomAD v3:
15-48427699-C-T
gnomAD v4:
15-48427699-C-T
COSMIC:
COSM962366
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48427699C>T , CM000677.2:g.48427699C>T | GRCh38 |
| NC_000015.9:g.48719896C>T , CM000677.1:g.48719896C>T | GRCh37 |
| NC_000015.8:g.46507188C>T | NCBI36 |
| NG_008805.2:g.223090G>A , LRG_778:g.223090G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.7134G>A | ENSP00000453958.2:p.Pro2378= | |
| ENST00000674301.2:c.*585G>A | ENSP00000501333.2:n.*585G>A | |
| ENST00000682170.1:n.1253G>A | ||
| ENST00000682767.1:n.369G>A | ||
| ENST00000316623.10:c.7072G>A MANE Select | ENSP00000325527.5:p.Val2358Ile | |
| ENST00000674301.1:c.2238G>A | ENSP00000501333.1:n.2238G>A | |
| ENST00000316623.9:c.7072G>A | ENSP00000325527.5:p.Val2358Ile | |
| ENST00000559133.5:c.2441G>A | ||
| NM_000138.4:c.7072G>A , LRG_778t1:c.7072G>A | NP_000129.3:p.Val2358Ile | |
| NM_000138.5:c.7072G>A MANE Select | NP_000129.3:p.Val2358Ile |