Linked Data
ClinVar Variation Id:
139562
dbSNP Id:
rs140621530
ExAC:
11:116701613 G / T
gnomAD v2:
11-116701613-G-T
gnomAD v3:
11-116830897-G-T
gnomAD v4:
11-116830897-G-T
PubMed:
PMID:24941081
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116830897G>T , CM000673.2:g.116830897G>T | GRCh38 |
| NC_000011.9:g.116701613G>T , CM000673.1:g.116701613G>T | GRCh37 |
| NC_000011.8:g.116206823G>T | NCBI36 |
| NG_008949.1:g.5990G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000227667.8:c.179+1G>T MANE Select | ENSP00000227667.2:n.179+1G>T | |
| ENST00000227667.7:c.179+1G>T | ENSP00000227667.2:n.179+1G>T | |
| ENST00000375345.3:c.233+1G>T | ENSP00000364494.1:n.233+1G>T | |
| ENST00000470144.1:n.211+1G>T | ||
| ENST00000630701.1:c.233+1G>T | ENSP00000486182.1:n.233+1G>T | |
| NM_000040.1:c.179+1G>T | NP_000031.1:n.179+1G>T | |
| NM_000040.2:c.179+1G>T | NP_000031.1:n.179+1G>T | |
| NM_000040.3:c.179+1G>T MANE Select | NP_000031.1:n.179+1G>T |