Linked Data
ClinVar Variation Id:
1079495
ClinVar RCV Id:
RCV001394776
dbSNP Id:
rs1719439232
gnomAD v4:
4-15559170-T-C
MyVariant Identifiers:
chr4:g.15560793T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15559170T>C , CM000666.2:g.15559170T>C | GRCh38 |
| NC_000004.11:g.15560793T>C , CM000666.1:g.15560793T>C | GRCh37 |
| NC_000004.10:g.15169891T>C | NCBI36 |
| NG_013035.1:g.94305T>C , LRG_697:g.94305T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389652.11:c.2835T>C | ENSP00000374303.8:p.Tyr945= | |
| ENST00000424120.6:c.2835T>C MANE Select | ENSP00000403465.1:p.Tyr945= | |
| ENST00000503292.6:c.2835T>C | ENSP00000421809.1:p.Tyr945= | |
| ENST00000506643.5:c.2688T>C | ENSP00000422931.2:p.Tyr896= | |
| ENST00000634028.2:c.2688T>C | ENSP00000488669.2:p.Tyr896= | |
| ENST00000650860.2:c.2688T>C | ENSP00000498775.1:p.Tyr896= | |
| ENST00000674945.1:c.2688T>C | ENSP00000502333.1:p.Tyr896= | |
| ENST00000675619.1:n.914T>C | ||
| ENST00000675768.1:n.55T>C | ||
| ENST00000676337.1:c.2688T>C | ENSP00000501728.1:p.Tyr896= | |
| ENST00000680586.1:n.762T>C | ||
| ENST00000389652.9:c.2297T>C | ||
| ENST00000424120.5:c.2835T>C | ENSP00000403465.1:p.Tyr945= | |
| ENST00000503292.5:c.2835T>C | ENSP00000421809.1:p.Tyr945= | |
| ENST00000506643.4:c.1163T>C | ||
| ENST00000634028.1:c.2818T>C | ENSP00000488669.1:n.2818T>C | |
| NM_001080522.2:c.2835T>C , LRG_697t1:c.2835T>C | NP_001073991.2:p.Tyr945= | |
| XM_005248177.1:c.2835T>C | XP_005248234.1:p.Tyr945= | |
| XM_011513869.1:c.2835T>C | XP_011512171.1:p.Tyr945= | |
| XM_011513870.1:c.2835T>C | XP_011512172.1:p.Tyr945= | |
| XM_011513871.1:c.2688T>C | XP_011512173.1:p.Tyr896= | |
| XM_011513872.1:c.2835T>C | XP_011512174.1:p.Tyr945= | |
| XM_011513873.1:c.2835T>C | XP_011512175.1:p.Tyr945= | |
| XM_011513872.3:c.2835T>C | XP_011512174.1:p.Tyr945= | |
| XM_017008482.1:c.2688T>C | XP_016863971.1:p.Tyr896= | |
| XR_001741296.1:n.3035T>C | ||
| NM_001378615.1:c.2835T>C MANE Select | NP_001365544.1:p.Tyr945= | |
| NM_001378617.1:c.2688T>C | NP_001365546.1:p.Tyr896= |