Linked Data
ClinVar Variation Id:
48148
dbSNP Id:
rs111033422
ExAC:
3:150690490 T / G
gnomAD v2:
3-150690490-T-G
gnomAD v3:
3-150972703-T-G
gnomAD v4:
3-150972703-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150972703T>G , CM000665.2:g.150972703T>G | GRCh38 |
| NC_000003.11:g.150690490T>G , CM000665.1:g.150690490T>G | GRCh37 |
| NC_000003.10:g.152173180T>G | NCBI36 |
| NG_009168.1:g.5297A>C , LRG_700:g.5297A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327047.6:c.6A>C (CLRN1) MANE Select | ENSP00000322280.1:p.Pro2= | |
| ENST00000327047.5:c.6A>C (CLRN1) | ENSP00000322280.1:p.Pro2= | |
| ENST00000328863.8:c.6A>C (CLRN1) | ENSP00000329158.4:p.Pro2= | |
| ENST00000472224.1:n.12A>C (CLRN1) | ||
| NM_001195794.1:c.6A>C , LRG_700t1:c.6A>C (CLRN1) | NP_001182723.1:p.Pro2= | |
| NM_001256819.1:c.6A>C (CLRN1) | NP_001243748.1:p.Pro2= | |
| NM_174878.2:c.6A>C (CLRN1) | NP_777367.1:p.Pro2= | |
| NR_024066.1:n.26T>G (CLRN1-AS1) | ||
| NR_046380.2:n.297A>C (CLRN1) | ||
| XR_924167.1:n.318A>C (CLRN1) | ||
| NR_024066.2:n.26T>G (CLRN1-AS1) | ||
| NM_001256819.2:c.6A>C (CLRN1) | NP_001243748.1:p.Pro2= | |
| NM_174878.3:c.6A>C (CLRN1) MANE Select | NP_777367.1:p.Pro2= | |
| NR_046380.3:n.25A>C (CLRN1) |