Linked Data
dbSNP Id:
rs1328641
gnomAD v2:
13-36745029-C-T
gnomAD v3:
13-36170892-C-T
gnomAD v4:
13-36170892-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.36170892C>T , CM000675.2:g.36170892C>T | GRCh38 |
| NC_000013.10:g.36745029C>T , CM000675.1:g.36745029C>T | GRCh37 |
| NC_000013.9:g.35643029C>T | NCBI36 |
| NG_033786.1:g.48724G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379881.8:c.1001-105G>A (SOHLH2) MANE Select | ENSP00000369210.3:n.1001-105G>A | |
| ENST00000379881.7:c.1001-105G>A (SOHLH2) | ENSP00000369210.3:n.1001-105G>A | |
| ENST00000511166.1:c.1232-105G>A (CCDC169-SOHLH2) | ENSP00000421868.1:n.1232-105G>A | |
| NM_001198910.1:c.1232-105G>A (CCDC169-SOHLH2) | NP_001185839.1:n.1232-105G>A | |
| NM_017826.2:c.1001-105G>A (SOHLH2) | NP_060296.2:n.1001-105G>A | |
| NM_017826.3:c.1001-105G>A (SOHLH2) MANE Select | NP_060296.2:n.1001-105G>A | |
| NM_001198910.2:c.1232-105G>A (CCDC169-SOHLH2) | NP_001185839.1:n.1232-105G>A |