Linked Data
ClinVar Variation Id:
347774
ClinVar RCV Id:
RCV000389477
dbSNP Id:
rs759250713
ExAC:
4:155488818 T / C
gnomAD v2:
4-155488818-T-C
gnomAD v3:
4-154567666-T-C
gnomAD v4:
4-154567666-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154567666T>C , CM000666.2:g.154567666T>C | GRCh38 |
| NC_000004.11:g.155488818T>C , CM000666.1:g.155488818T>C | GRCh37 |
| NC_000004.10:g.155708268T>C | NCBI36 |
| NG_008833.1:g.9687T>C , LRG_558:g.9687T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302068.9:c.564T>C MANE Select | ENSP00000306099.4:p.Asn188= | |
| ENST00000302068.8:c.564T>C | ENSP00000306099.4:p.Asn188= | |
| ENST00000473984.1:n.477T>C | ||
| ENST00000502545.5:n.545T>C | ||
| ENST00000509493.1:c.-94T>C | ENSP00000426757.1:n.-94T>C | |
| NM_001184741.1:c.387T>C | NP_001171670.1:p.Asn129= | |
| NM_005141.4:c.564T>C , LRG_558t1:c.564T>C | NP_005132.2:p.Asn188= | |
| NM_001382759.1:c.432T>C | NP_001369688.1:p.Asn144= | |
| NM_001382760.1:c.564T>C | NP_001369689.1:p.Asn188= | |
| NM_001382761.1:c.564T>C | NP_001369690.1:p.Asn188= | |
| NM_001382762.1:c.564T>C | NP_001369691.1:p.Asn188= | |
| NM_001382763.1:c.564T>C | NP_001369692.1:p.Asn188= | |
| NM_001382764.1:c.564T>C | NP_001369693.1:p.Asn188= | |
| NM_001382765.1:c.564T>C | NP_001369694.1:p.Asn188= | |
| NM_005141.5:c.564T>C MANE Select | NP_005132.2:p.Asn188= |