Linked Data
dbSNP Id:
rs373496693
ExAC:
10:124268328 G / T
gnomAD v2:
10-124268328-G-T
gnomAD v3:
10-122508812-G-T
gnomAD v4:
10-122508812-G-T
MyVariant Identifiers:
chr10:g.124268328G>T (hg19)
chr10:g.124268328_124268329delinsTC (hg19)
chr10:g.122508812G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508812G>T , CM000672.2:g.122508812G>T | GRCh38 |
| NC_000010.10:g.124268328G>T , CM000672.1:g.124268328G>T | GRCh37 |
| NC_000010.9:g.124258318G>T | NCBI36 |
| NG_011554.1:g.52288G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.1120+42G>T MANE Select | ENSP00000357980.3:n.1120+42G>T | |
| ENST00000648167.1:c.802+42G>T | ENSP00000498033.1:n.802+42G>T | |
| ENST00000368984.7:c.1120+42G>T | ENSP00000357980.3:n.1120+42G>T | |
| ENST00000420892.1:c.343+42G>T | ENSP00000412676.1:n.343+42G>T | |
| NM_002775.4:c.1120+42G>T | NP_002766.1:n.1120+42G>T | |
| NM_002775.5:c.1120+42G>T MANE Select | NP_002766.1:n.1120+42G>T |