Linked Data
ClinVar Variation Id:
1540244
ClinVar RCV Id:
RCV002177084
dbSNP Id:
rs1947446999
gnomAD v3:
12-8082327-G-T
gnomAD v4:
12-8082327-G-T
MyVariant Identifiers:
chr12:g.8234923G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8082327G>T , CM000674.2:g.8082327G>T | GRCh38 |
| NC_000012.11:g.8234923G>T , CM000674.1:g.8234923G>T | GRCh37 |
| NC_000012.10:g.8126190G>T | NCBI36 |
| NG_034155.1:g.5117G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339754.11:c.39G>T MANE Select | ENSP00000341737.5:p.Val13= | |
| ENST00000537796.2:n.48G>T | ||
| ENST00000541948.2:c.39G>T | ENSP00000440658.2:p.Val13= | |
| ENST00000542095.6:n.73G>T | ||
| ENST00000544891.6:n.48G>T | ||
| ENST00000545807.6:n.20G>T | ||
| ENST00000546181.2:n.100G>T | ||
| ENST00000638237.1:c.39G>T | ENSP00000492254.1:p.Val13= | |
| ENST00000638787.1:c.39G>T | ENSP00000491384.1:p.Val13= | |
| ENST00000638883.1:n.37G>T | ||
| ENST00000639038.1:c.39G>T | ENSP00000492452.1:p.Val13= | |
| ENST00000639071.1:n.54G>T | ||
| ENST00000639167.1:c.39G>T | ENSP00000490999.1:p.Val13= | |
| ENST00000639276.1:n.60G>T | ||
| ENST00000639595.1:c.39G>T | ENSP00000492560.1:p.Val13= | |
| ENST00000639811.1:c.39G>T | ENSP00000492554.1:p.Val13= | |
| ENST00000639955.1:c.39G>T | ENSP00000491067.1:p.Val13= | |
| ENST00000640099.1:n.51G>T | ||
| ENST00000640209.1:c.39G>T | ENSP00000492613.1:p.Val13= | |
| ENST00000640481.1:n.28G>T | ||
| ENST00000640648.1:n.433G>T | ||
| ENST00000339754.9:c.39G>T | ENSP00000341737.5:p.Val13= | |
| ENST00000450991.6:c.39G>T | ENSP00000401963.2:p.Val13= | |
| ENST00000541948.1:c.39G>T | ENSP00000440658.1:p.Val13= | |
| ENST00000542095.5:n.73G>T | ||
| ENST00000544891.5:n.58G>T | ||
| ENST00000545807.5:n.60G>T | ||
| ENST00000546181.1:n.100G>T | ||
| NM_015509.3:c.39G>T | NP_056324.2:p.Val13= | |
| NR_024260.1:n.117G>T | ||
| NM_015509.4:c.39G>T MANE Select | NP_056324.2:p.Val13= | |
| NR_024260.2:n.54G>T |