Linked Data
ClinVar Variation Id:
387294
dbSNP Id:
rs540399320
ExAC:
2:241661993 C / A
gnomAD v2:
2-241661993-C-A
gnomAD v3:
2-240722576-C-A
gnomAD v4:
2-240722576-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240722576C>A , CM000664.2:g.240722576C>A | GRCh38 |
| NC_000002.11:g.241661993C>A , CM000664.1:g.241661993C>A | GRCh37 |
| NC_000002.10:g.241310666C>A | NCBI36 |
| NG_029724.1:g.102632G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320389.12:c.4266G>T | ENSP00000322791.8:p.Pro1422= | |
| ENST00000404283.9:c.4569G>T | ENSP00000384231.5:p.Pro1523= | |
| ENST00000431776.6:c.1365G>T | ENSP00000414613.2:p.Pro455= | |
| ENST00000465813.2:n.105G>T | ||
| ENST00000492812.6:n.3128G>T | ||
| ENST00000498729.9:c.4545G>T MANE Select | ENSP00000438388.1:p.Pro1515= | |
| ENST00000647731.1:c.4269G>T | ENSP00000498099.1:p.Pro1423= | |
| ENST00000647885.1:c.4356G>T | ENSP00000497739.1:p.Pro1452= | |
| ENST00000648047.1:c.3504G>T | ENSP00000497935.1:p.Pro1168= | |
| ENST00000648129.1:c.4518G>T | ENSP00000497293.1:p.Pro1506= | |
| ENST00000648364.1:c.4269G>T | ENSP00000498196.1:p.Pro1423= | |
| ENST00000648680.1:c.4296G>T | ENSP00000497586.1:p.Pro1432= | |
| ENST00000649096.1:c.4242G>T | ENSP00000497030.1:p.Pro1414= | |
| ENST00000649190.1:n.3539G>T | ||
| ENST00000649306.1:c.4344G>T | ENSP00000497678.1:p.Pro1448= | |
| ENST00000650053.1:c.4242G>T | ENSP00000497824.1:p.Pro1414= | |
| ENST00000650130.1:c.4518G>T | ENSP00000498082.1:p.Pro1506= | |
| ENST00000650430.1:n.3617G>T | ||
| ENST00000320389.11:c.4242G>T | ENSP00000322791.7:p.Pro1414= | |
| ENST00000431776.5:c.1040G>T | ||
| ENST00000460788.5:n.1102G>T | ||
| ENST00000465813.1:n.83G>T | ||
| ENST00000492812.5:n.1017G>T | ||
| ENST00000498729.6:c.4545G>T | ENSP00000438388.1:p.Pro1515= | |
| NM_001244008.1:c.4545G>T | NP_001230937.1:p.Pro1515= | |
| NM_004321.6:c.4242G>T | NP_004312.2:p.Pro1414= | |
| XM_005247022.1:c.4572G>T | XP_005247079.1:p.Pro1524= | |
| XM_005247023.1:c.4569G>T | XP_005247080.1:p.Pro1523= | |
| XM_005247024.1:c.4545G>T | XP_005247081.1:p.Pro1515= | |
| XM_005247026.1:c.4269G>T | XP_005247083.1:p.Pro1423= | |
| XM_005247027.1:c.4266G>T | XP_005247084.1:p.Pro1422= | |
| XM_005247028.1:c.4242G>T | XP_005247085.1:p.Pro1414= | |
| XM_006712605.1:c.4518G>T | XP_006712668.1:p.Pro1506= | |
| XM_011511364.1:c.4572G>T | XP_011509666.1:p.Pro1524= | |
| XM_011511365.1:c.4296G>T | XP_011509667.1:p.Pro1432= | |
| XM_011511366.1:c.3567G>T | XP_011509668.1:p.Pro1189= | |
| XM_011511367.1:c.3567G>T | XP_011509669.1:p.Pro1189= | |
| NM_001320705.1:c.4269G>T | NP_001307634.1:p.Pro1423= | |
| NM_001330289.1:c.4296G>T | NP_001317218.1:p.Pro1432= | |
| NM_001330290.1:c.4344G>T | NP_001317219.1:p.Pro1448= | |
| NM_004321.7:c.4242G>T | NP_004312.2:p.Pro1414= | |
| NM_001320705.2:c.4269G>T | NP_001307634.1:p.Pro1423= | |
| NM_001330289.2:c.4296G>T | NP_001317218.1:p.Pro1432= | |
| NM_001330290.2:c.4344G>T | NP_001317219.1:p.Pro1448= | |
| NM_001244008.2:c.4545G>T MANE Select | NP_001230937.1:p.Pro1515= | |
| NM_001379631.1:c.4620G>T | NP_001366560.1:p.Pro1540= | |
| NM_001379632.1:c.4521G>T | NP_001366561.1:p.Pro1507= | |
| NM_001379633.1:c.4518G>T | NP_001366562.1:p.Pro1506= | |
| NM_001379634.1:c.4371G>T | NP_001366563.1:p.Pro1457= | |
| NM_001379635.1:c.4368G>T | NP_001366564.1:p.Pro1456= | |
| NM_001379636.1:c.4356G>T | NP_001366565.1:p.Pro1452= | |
| NM_001379637.1:c.4317G>T | NP_001366566.1:p.Pro1439= | |
| NM_001379638.1:c.4293G>T | NP_001366567.1:p.Pro1431= | |
| NM_001379639.1:c.4266G>T | NP_001366568.1:p.Pro1422= | |
| NM_001379640.1:c.4239G>T | NP_001366569.1:p.Pro1413= | |
| NM_001379641.1:c.4242G>T | NP_001366570.1:p.Pro1414= | |
| NM_001379642.1:c.4545G>T | NP_001366571.1:p.Pro1515= | |
| NM_001379645.1:c.4518G>T | NP_001366574.1:p.Pro1506= | |
| NM_001379646.1:c.4368G>T | NP_001366575.1:p.Pro1456= | |
| NM_001379648.1:c.4344G>T | NP_001366577.1:p.Pro1448= | |
| NM_001379649.1:c.4269G>T | NP_001366578.1:p.Pro1423= | |
| NM_001379650.1:c.4242G>T | NP_001366579.1:p.Pro1414= | |
| NM_001379651.1:c.4242G>T | NP_001366580.1:p.Pro1414= | |
| NM_001379653.1:c.4242G>T | NP_001366582.1:p.Pro1414= | |
| NM_004321.8:c.4242G>T | NP_004312.2:p.Pro1414= |