Linked Data
ClinVar Variation Id:
1335019
ClinVar RCV Id:
RCV001816077
dbSNP Id:
rs989945025
gnomAD v2:
1-237048507-T-C
gnomAD v3:
1-236885207-T-C
gnomAD v4:
1-236885207-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236885207T>C , CM000663.2:g.236885207T>C | GRCh38 |
| NC_000001.10:g.237048507T>C , CM000663.1:g.237048507T>C | GRCh37 |
| NC_000001.9:g.235115130T>C | NCBI36 |
| NG_008959.1:g.94927T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366577.10:c.2763T>C MANE Select | ENSP00000355536.5:p.Tyr921= | |
| ENST00000535889.6:c.2610T>C | ENSP00000441845.1:p.Tyr870= | |
| ENST00000650888.1:c.*1805T>C | ENSP00000498393.1:n.*1805T>C | |
| ENST00000651455.1:c.*1507T>C | ENSP00000498963.1:n.*1507T>C | |
| ENST00000674797.2:c.2415T>C | ENSP00000502299.2:p.Tyr805= | |
| ENST00000679569.1:n.3077T>C | ||
| ENST00000679842.1:c.2574T>C | ENSP00000506109.1:p.Tyr858= | |
| ENST00000680454.1:n.3207T>C | ||
| ENST00000681102.1:c.2583T>C | ENSP00000505600.1:p.Tyr861= | |
| ENST00000681177.1:c.2325T>C | ENSP00000506327.1:p.Tyr775= | |
| ENST00000681937.1:n.2957T>C | ||
| ENST00000366576.3:c.1425T>C | ENSP00000355535.3:p.Tyr475= | |
| ENST00000366577.9:c.2763T>C | ENSP00000355536.5:p.Tyr921= | |
| ENST00000535889.5:c.2610T>C | ENSP00000441845.1:p.Tyr870= | |
| NM_000254.2:c.2763T>C | NP_000245.2:p.Tyr921= | |
| NM_001291939.1:c.2610T>C | NP_001278868.1:p.Tyr870= | |
| NM_001291940.1:c.1542T>C | NP_001278869.1:p.Tyr514= | |
| XM_005273141.3:c.2760T>C | XP_005273198.1:p.Tyr920= | |
| XM_006711769.2:c.2763T>C | XP_006711832.1:p.Tyr921= | |
| XM_006711770.1:c.1827T>C | XP_006711833.1:p.Tyr609= | |
| XM_011544193.1:c.2574T>C | XP_011542495.1:p.Tyr858= | |
| XM_011544194.1:c.2931T>C | XP_011542496.1:p.Tyr977= | |
| XM_005273141.5:c.2760T>C | XP_005273198.1:p.Tyr920= | |
| XM_006711770.3:c.1827T>C | XP_006711833.1:p.Tyr609= | |
| XM_011544194.3:c.2931T>C | XP_011542496.1:p.Tyr977= | |
| XM_017001329.2:c.2778T>C | XP_016856818.1:p.Tyr926= | |
| XM_017001330.2:c.2742T>C | XP_016856819.1:p.Tyr914= | |
| NM_001291940.2:c.1542T>C | NP_001278869.1:p.Tyr514= | |
| NM_000254.3:c.2763T>C MANE Select | NP_000245.2:p.Tyr921= |