Linked Data
ClinVar Variation Id:
4123
dbSNP Id:
rs113994006
ExAC:
12:124114943 C / T
gnomAD v2:
12-124114943-C-T
gnomAD v3:
12-123630396-C-T
gnomAD v4:
12-123630396-C-T
COSMIC:
COSM3376159
PubMed:
PMID:11835386
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123630396C>T , CM000674.2:g.123630396C>T | GRCh38 |
| NC_000012.11:g.124114943C>T , CM000674.1:g.124114943C>T | GRCh37 |
| NC_000012.10:g.122680896C>T | NCBI36 |
| NG_015862.1:g.8381G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000424014.7:c.252+1G>A MANE Select | ENSP00000416250.2:n.252+1G>A | |
| ENST00000424014.6:c.252+1G>A | ENSP00000416250.2:n.252+1G>A | |
| ENST00000452159.6:n.383+1G>A | ||
| ENST00000534960.5:c.299+1G>A | ||
| ENST00000537073.1:c.252+1G>A | ENSP00000444183.1:n.252+1G>A | |
| ENST00000539951.5:c.213+1G>A | ENSP00000438060.1:n.213+1G>A | |
| ENST00000543940.1:n.352+1G>A | ||
| NM_001414.3:c.252+1G>A | NP_001405.1:n.252+1G>A | |
| NM_001414.4:c.252+1G>A MANE Select | NP_001405.1:n.252+1G>A |