Linked Data
ClinVar Variation Id:
3037787
ClinVar RCV Id:
RCV003907285
dbSNP Id:
rs117864155
ExAC:
13:36776175 G / A
gnomAD v2:
13-36776175-G-A
gnomAD v3:
13-36202038-G-A
gnomAD v4:
13-36202038-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.36202038G>A , CM000675.2:g.36202038G>A | GRCh38 |
| NC_000013.10:g.36776175G>A , CM000675.1:g.36776175G>A | GRCh37 |
| NC_000013.9:g.35674175G>A | NCBI36 |
| NG_033786.1:g.17578C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379881.8:c.104C>T (SOHLH2) MANE Select | ENSP00000369210.3:p.Thr35Ile | |
| ENST00000317764.6:c.104C>T (SOHLH2) | ENSP00000326838.6:p.Thr35Ile | |
| ENST00000379881.7:c.104C>T (SOHLH2) | ENSP00000369210.3:p.Thr35Ile | |
| ENST00000511166.1:c.335C>T (CCDC169-SOHLH2) | ENSP00000421868.1:p.Thr112Ile | |
| NM_001198910.1:c.335C>T (CCDC169-SOHLH2) | NP_001185839.1:p.Thr112Ile | |
| NM_001282147.1:c.104C>T (SOHLH2) | NP_001269076.1:p.Thr35Ile | |
| NM_017826.2:c.104C>T (SOHLH2) | NP_060296.2:p.Thr35Ile | |
| NM_017826.3:c.104C>T (SOHLH2) MANE Select | NP_060296.2:p.Thr35Ile | |
| NM_001198910.2:c.335C>T (CCDC169-SOHLH2) | NP_001185839.1:p.Thr112Ile | |
| NM_001282147.2:c.104C>T (SOHLH2) | NP_001269076.1:p.Thr35Ile |