Linked Data
ClinVar Variation Id:
3039034
ClinVar RCV Id:
RCV003914383
dbSNP Id:
rs76803829
ExAC:
13:36744920 T / C
gnomAD v2:
13-36744920-T-C
gnomAD v3:
13-36170783-T-C
gnomAD v4:
13-36170783-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.36170783T>C , CM000675.2:g.36170783T>C | GRCh38 |
| NC_000013.10:g.36744920T>C , CM000675.1:g.36744920T>C | GRCh37 |
| NC_000013.9:g.35642920T>C | NCBI36 |
| NG_033786.1:g.48833A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379881.8:c.1005A>G (SOHLH2) MANE Select | ENSP00000369210.3:p.Pro335= | |
| ENST00000379881.7:c.1005A>G (SOHLH2) | ENSP00000369210.3:p.Pro335= | |
| ENST00000511166.1:c.1236A>G (CCDC169-SOHLH2) | ENSP00000421868.1:p.Pro412= | |
| NM_001198910.1:c.1236A>G (CCDC169-SOHLH2) | NP_001185839.1:p.Pro412= | |
| NM_017826.2:c.1005A>G (SOHLH2) | NP_060296.2:p.Pro335= | |
| NM_017826.3:c.1005A>G (SOHLH2) MANE Select | NP_060296.2:p.Pro335= | |
| NM_001198910.2:c.1236A>G (CCDC169-SOHLH2) | NP_001185839.1:p.Pro412= |