Linked Data
ClinVar Variation Id:
408310
dbSNP Id:
rs145596547
ExAC:
1:10394639 G / A
gnomAD v2:
1-10394639-G-A
gnomAD v3:
1-10334581-G-A
gnomAD v4:
1-10334581-G-A
COSMIC:
COSM462509
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10334581G>A , CM000663.2:g.10334581G>A | GRCh38 |
| NC_000001.10:g.10394639G>A , CM000663.1:g.10394639G>A | GRCh37 |
| NC_000001.9:g.10317226G>A | NCBI36 |
| NG_008069.1:g.128876G>A , LRG_252:g.128876G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696502.1:c.2848G>A | ENSP00000512668.1:p.Val950Ile | |
| ENST00000696503.1:c.2911G>A | ENSP00000512669.1:p.Val971Ile | |
| ENST00000696504.1:c.2911G>A | ENSP00000512670.1:p.Val971Ile | |
| ENST00000676179.1:c.2986G>A MANE Select | ENSP00000502065.1:p.Val996Ile | |
| ENST00000263934.10:c.2848G>A | ENSP00000263934.6:p.Val950Ile | |
| ENST00000377081.5:c.2986G>A | ENSP00000366284.1:p.Val996Ile | |
| ENST00000377086.5:c.2986G>A | ENSP00000366290.1:p.Val996Ile | |
| ENST00000620295.2:c.2944G>A | ENSP00000478500.1:p.Val982Ile | |
| ENST00000622724.3:c.2908G>A | ENSP00000480063.1:p.Val970Ile | |
| NM_015074.3:c.2848G>A , LRG_252t1:c.2848G>A | NP_055889.2:p.Val950Ile | |
| NM_001365951.1:c.2986G>A | NP_001352880.1:p.Val996Ile | |
| NM_001365952.1:c.2986G>A | NP_001352881.1:p.Val996Ile | |
| NM_001365951.3:c.2986G>A MANE Select | NP_001352880.1:p.Val996Ile |