Linked Data
ClinVar Variation Id:
3226940
ClinVar RCV Id:
RCV004522106
dbSNP Id:
rs113167523
ExAC:
11:65635794 C / T
gnomAD v2:
11-65635794-C-T
gnomAD v3:
11-65868323-C-T
gnomAD v4:
11-65868323-C-T
COSMIC:
COSM467249
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65868323C>T , CM000673.2:g.65868323C>T | GRCh38 |
| NC_000011.9:g.65635794C>T , CM000673.1:g.65635794C>T | GRCh37 |
| NC_000011.8:g.65392370C>T | NCBI36 |
| NG_012304.2:g.9612G>A | |
| NG_053116.1:g.13262C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.946G>A MANE Select | ENSP00000309953.6:p.Val316Met | |
| ENST00000307998.10:c.946G>A | ENSP00000309953.6:p.Val316Met | |
| ENST00000525392.1:n.107G>A | ||
| ENST00000526628.5:n.1512G>A | ||
| ENST00000528176.5:c.946G>A | ENSP00000434151.1:p.Val316Met | |
| ENST00000528409.1:n.190G>A | ||
| ENST00000530806.5:c.-53G>A | ENSP00000436526.1:n.-53G>A | |
| ENST00000531005.5:n.1940G>A | ||
| ENST00000531645.5:c.94G>A | ENSP00000436521.1:p.Val32Met | |
| ENST00000531972.5:c.946G>A | ENSP00000435295.1:p.Val316Met | |
| ENST00000532084.5:n.372G>A | ||
| NM_016938.4:c.946G>A | NP_058634.4:p.Val316Met | |
| NR_037718.1:n.1205G>A | ||
| NM_016938.5:c.946G>A MANE Select | NP_058634.4:p.Val316Met | |
| NR_037718.2:n.1071G>A |