Linked Data
ClinVar Variation Id:
723364
ClinVar RCV Id:
RCV000897113
dbSNP Id:
rs114589323
ExAC:
4:71691900 G / A
gnomAD v2:
4-71691900-G-A
gnomAD v3:
4-70826183-G-A
gnomAD v4:
4-70826183-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.70826183G>A , CM000666.2:g.70826183G>A | GRCh38 |
| NC_000004.11:g.71691900G>A , CM000666.1:g.71691900G>A | GRCh37 |
| NC_000004.10:g.71910764G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254799.11:c.1198C>T MANE Select | ENSP00000254799.6:p.Leu400= | |
| ENST00000254799.10:c.1198C>T | ENSP00000254799.6:p.Leu400= | |
| ENST00000499044.6:c.1117C>T | ENSP00000427354.1:p.Leu373= | |
| ENST00000502323.5:c.712C>T | ENSP00000425430.1:p.Leu238= | |
| ENST00000505068.5:n.1268C>T | ||
| ENST00000506453.1:c.492C>T | ENSP00000427644.1:n.492C>T | |
| ENST00000508091.1:n.304-5322C>T | ||
| ENST00000514161.5:c.1008C>T | ||
| ENST00000545193.5:c.1030C>T | ENSP00000443380.2:p.Leu344= | |
| NM_001098477.1:c.712C>T | NP_001091947.1:p.Leu238= | |
| NM_002092.3:c.1198C>T | NP_002083.3:p.Leu400= | |
| XM_005265681.2:c.1441C>T | XP_005265738.1:p.Leu481= | |
| XM_011531897.1:c.712C>T | XP_011530199.1:p.Leu238= | |
| XM_011531898.1:c.712C>T | XP_011530200.1:p.Leu238= | |
| XM_005265681.4:c.1441C>T | XP_005265738.1:p.Leu481= | |
| XM_011531897.3:c.712C>T | XP_011530199.1:p.Leu238= | |
| NM_002092.4:c.1198C>T MANE Select | NP_002083.4:p.Leu400= | |
| NM_001098477.2:c.712C>T | NP_001091947.1:p.Leu238= |