Linked Data
ClinVar Variation Id:
48149
dbSNP Id:
rs187218889
ExAC:
3:150690487 G / T
gnomAD v2:
3-150690487-G-T
gnomAD v3:
3-150972700-G-T
gnomAD v4:
3-150972700-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150972700G>T , CM000665.2:g.150972700G>T | GRCh38 |
| NC_000003.11:g.150690487G>T , CM000665.1:g.150690487G>T | GRCh37 |
| NC_000003.10:g.152173177G>T | NCBI36 |
| NG_009168.1:g.5300C>A , LRG_700:g.5300C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.9C>A (CLRN1) MANE Select | ENSP00000322280.1:p.Ser3Arg | |
| ENST00000327047.5:c.9C>A (CLRN1) | ENSP00000322280.1:p.Ser3Arg | |
| ENST00000328863.8:c.9C>A (CLRN1) | ENSP00000329158.4:p.Ser3Arg | |
| ENST00000472224.1:n.15C>A (CLRN1) | ||
| NM_001195794.1:c.9C>A , LRG_700t1:c.9C>A (CLRN1) | NP_001182723.1:p.Ser3Arg | |
| NM_001256819.1:c.9C>A (CLRN1) | NP_001243748.1:p.Ser3Arg | |
| NM_174878.2:c.9C>A (CLRN1) | NP_777367.1:p.Ser3Arg | |
| NR_024066.1:n.23G>T (CLRN1-AS1) | ||
| NR_046380.2:n.300C>A (CLRN1) | ||
| XR_924167.1:n.321C>A (CLRN1) | ||
| NR_024066.2:n.23G>T (CLRN1-AS1) | ||
| NM_001256819.2:c.9C>A (CLRN1) | NP_001243748.1:p.Ser3Arg | |
| NM_174878.3:c.9C>A (CLRN1) MANE Select | NP_777367.1:p.Ser3Arg | |
| NR_046380.3:n.28C>A (CLRN1) |