Linked Data
ClinVar Variation Id:
29756
dbSNP Id:
rs387906639
ExAC:
5:140054361 T / G
gnomAD v2:
5-140054361-T-G
gnomAD v3:
5-140674776-T-G
gnomAD v4:
5-140674776-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140674776T>G , CM000667.2:g.140674776T>G | GRCh38 |
| NC_000005.9:g.140054361T>G , CM000667.1:g.140054361T>G | GRCh37 |
| NC_000005.8:g.140034545T>G | NCBI36 |
| NG_032158.1:g.21611A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431330.7:c.1019A>C | ENSP00000393244.2:p.Tyr340Ser | |
| ENST00000504156.7:c.1361A>C MANE Select | ENSP00000425634.1:p.Tyr454Ser | |
| ENST00000506579.6:n.4106A>C | ||
| ENST00000507746.7:c.1361A>C | ENSP00000425889.2:p.Tyr454Ser | |
| ENST00000509087.2:c.347A>C | ENSP00000502781.1:p.Tyr116Ser | |
| ENST00000512396.6:c.*1300A>C | ENSP00000421576.1:n.*1300A>C | |
| ENST00000643686.1:c.*1416A>C | ENSP00000493611.1:n.*1416A>C | |
| ENST00000645491.1:c.*1294A>C | ENSP00000494297.1:n.*1294A>C | |
| ENST00000646229.1:c.1412A>C | ||
| ENST00000674523.1:c.*651A>C | ENSP00000501816.1:n.*651A>C | |
| ENST00000675094.1:n.2458A>C | ||
| ENST00000675204.1:c.1361A>C | ENSP00000501643.1:p.Tyr454Ser | |
| ENST00000675355.1:n.1146A>C | ||
| ENST00000675366.1:c.1244A>C | ENSP00000501747.1:p.Tyr415Ser | |
| ENST00000675698.1:c.1154A>C | ENSP00000501581.1:p.Tyr385Ser | |
| ENST00000675763.1:n.3268A>C | ||
| ENST00000675827.1:c.*454A>C | ENSP00000501900.1:n.*454A>C | |
| ENST00000675851.1:c.1031A>C | ENSP00000502624.1:p.Tyr344Ser | |
| ENST00000675898.1:n.3179A>C | ||
| ENST00000675967.1:n.2975A>C | ||
| ENST00000676327.1:c.1253A>C | ENSP00000502594.1:p.Tyr418Ser | |
| ENST00000307633.7:c.1181A>C | ENSP00000304668.3:p.Tyr394Ser | |
| ENST00000415192.6:c.1139A>C | ENSP00000411085.2:p.Tyr380Ser | |
| ENST00000431330.6:c.1019A>C | ENSP00000393244.2:p.Tyr340Ser | |
| ENST00000438307.6:c.1241A>C | ENSP00000411511.2:p.Tyr414Ser | |
| ENST00000457527.6:c.1301A>C | ENSP00000387893.2:p.Tyr434Ser | |
| ENST00000504156.5:c.1361A>C | ENSP00000425634.1:p.Tyr454Ser | |
| ENST00000504366.5:c.1154A>C | ENSP00000430063.1:p.Tyr385Ser | |
| ENST00000509087.1:n.367A>C | ||
| NM_001258040.2:c.1241A>C | NP_001244969.1:p.Tyr414Ser | |
| NM_001258041.2:c.1301A>C | NP_001244970.1:p.Tyr434Ser | |
| NM_001258042.2:c.1181A>C | NP_001244971.1:p.Tyr394Ser | |
| NM_001289092.1:c.1139A>C | NP_001276021.1:p.Tyr380Ser | |
| NM_001289093.1:c.1019A>C | NP_001276022.1:p.Tyr340Ser | |
| NM_001289094.1:c.1274A>C | NP_001276023.1:p.Tyr425Ser | |
| NM_002109.5:c.1361A>C | NP_002100.2:p.Tyr454Ser | |
| NM_002109.6:c.1361A>C MANE Select | NP_002100.2:p.Tyr454Ser | |
| NM_001258040.3:c.1241A>C | NP_001244969.1:p.Tyr414Ser | |
| NM_001258041.3:c.1301A>C | NP_001244970.1:p.Tyr434Ser | |
| NM_001258042.3:c.1181A>C | NP_001244971.1:p.Tyr394Ser | |
| NM_001289092.2:c.1139A>C | NP_001276021.1:p.Tyr380Ser | |
| NM_001289093.2:c.1019A>C | NP_001276022.1:p.Tyr340Ser | |
| NM_001289094.2:c.1274A>C | NP_001276023.1:p.Tyr425Ser |