Linked Data
ClinVar Variation Id:
3138772
ClinVar RCV Id:
RCV004435132
dbSNP Id:
rs34933583
ExAC:
13:36748870 C / T
gnomAD v2:
13-36748870-C-T
gnomAD v3:
13-36174733-C-T
gnomAD v4:
13-36174733-C-T
COSMIC:
COSM3384828
MyVariant Identifiers:
chr13:g.36748870C>T (hg19)
chr13:g.36748870_36748871delinsTG (hg19)
chr13:g.36174733C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.36174733C>T , CM000675.2:g.36174733C>T | GRCh38 |
| NC_000013.10:g.36748870C>T , CM000675.1:g.36748870C>T | GRCh37 |
| NC_000013.9:g.35646870C>T | NCBI36 |
| NG_033786.1:g.44883G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379881.8:c.778G>A (SOHLH2) MANE Select | ENSP00000369210.3:p.Val260Ile | |
| ENST00000379881.7:c.778G>A (SOHLH2) | ENSP00000369210.3:p.Val260Ile | |
| ENST00000511166.1:c.1009G>A (CCDC169-SOHLH2) | ENSP00000421868.1:p.Val337Ile | |
| NM_001198910.1:c.1009G>A (CCDC169-SOHLH2) | NP_001185839.1:p.Val337Ile | |
| NM_017826.2:c.778G>A (SOHLH2) | NP_060296.2:p.Val260Ile | |
| NM_017826.3:c.778G>A (SOHLH2) MANE Select | NP_060296.2:p.Val260Ile | |
| NM_001198910.2:c.1009G>A (CCDC169-SOHLH2) | NP_001185839.1:p.Val337Ile |