Linked Data
ClinVar Variation Id:
42238
ClinVar RCV Id:
RCV000035064
RCV000074147
RCV000131423
RCV000275522
RCV000755636
RCV001353619
RCV001675589
RCV002228115
RCV003148640
dbSNP Id:
rs2229992
ExAC:
5:112162854 T / C
gnomAD v2:
5-112162854-T-C
gnomAD v3:
5-112827157-T-C
gnomAD v4:
5-112827157-T-C
ERepo:
CA005169/MONDO:0021056/089
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112827157T>C , CM000667.2:g.112827157T>C | GRCh38 |
| NC_000005.9:g.112162854T>C , CM000667.1:g.112162854T>C | GRCh37 |
| NC_000005.8:g.112190753T>C | NCBI36 |
| NG_008481.4:g.139637T>C , LRG_130:g.139637T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502371.3:c.1408+5166T>C | ENSP00000484935.2:n.1408+5166T>C | |
| ENST00000504915.3:c.1512T>C | ENSP00000473355.2:p.Tyr504= | |
| ENST00000505084.2:n.1514T>C | ||
| ENST00000505350.2:c.*1464T>C | ENSP00000481752.1:n.*1464T>C | |
| ENST00000507379.6:c.1404T>C | ENSP00000423224.2:p.Tyr468= | |
| ENST00000509732.6:c.1458T>C | ENSP00000426541.2:p.Tyr486= | |
| ENST00000512211.7:c.1458T>C | ENSP00000423828.3:p.Tyr486= | |
| ENST00000257430.9:c.1458T>C MANE Select | ENSP00000257430.4:p.Tyr486= | |
| ENST00000257430.8:c.1458T>C | ENSP00000257430.4:p.Tyr486= | |
| ENST00000502371.2:c.96+5166T>C | ||
| ENST00000504915.2:c.147T>C | ENSP00000473355.1:p.Tyr49= | |
| ENST00000507379.5:c.1404T>C | ENSP00000423224.1:p.Tyr468= | |
| ENST00000508376.6:c.1458T>C | ENSP00000427089.2:p.Tyr486= | |
| ENST00000508624.5:c.*780T>C | ENSP00000424265.1:n.*780T>C | |
| ENST00000512211.6:c.1458T>C | ENSP00000423828.2:p.Tyr486= | |
| NM_000038.5:c.1458T>C | NP_000029.2:p.Tyr486= | |
| NM_001127510.2:c.1458T>C | NP_001120982.1:p.Tyr486= | |
| NM_001127511.2:c.1404T>C | NP_001120983.2:p.Tyr468= | |
| NM_001354895.1:c.1458T>C | NP_001341824.1:p.Tyr486= | |
| NM_001354896.1:c.1512T>C | NP_001341825.1:p.Tyr504= | |
| NM_001354897.1:c.1488T>C | NP_001341826.1:p.Tyr496= | |
| NM_001354898.1:c.1383T>C | NP_001341827.1:p.Tyr461= | |
| NM_001354899.1:c.1374T>C | NP_001341828.1:p.Tyr458= | |
| NM_001354900.1:c.1335T>C | NP_001341829.1:p.Tyr445= | |
| NM_001354901.1:c.1281T>C | NP_001341830.1:p.Tyr427= | |
| NM_001354902.1:c.1185T>C | NP_001341831.1:p.Tyr395= | |
| NM_001354903.1:c.1155T>C | NP_001341832.1:p.Tyr385= | |
| NM_001354904.1:c.1080T>C | NP_001341833.1:p.Tyr360= | |
| NM_001354905.1:c.978T>C | NP_001341834.1:p.Tyr326= | |
| NM_001354906.1:c.609T>C | NP_001341835.1:p.Tyr203= | |
| NM_000038.6:c.1458T>C MANE Select | NP_000029.2:p.Tyr486= | |
| NM_001127510.3:c.1458T>C | NP_001120982.1:p.Tyr486= | |
| NM_001127511.3:c.1404T>C | NP_001120983.2:p.Tyr468= | |
| NM_001354895.2:c.1458T>C | NP_001341824.1:p.Tyr486= | |
| NM_001354896.2:c.1512T>C | NP_001341825.1:p.Tyr504= | |
| NM_001354897.2:c.1488T>C | NP_001341826.1:p.Tyr496= | |
| NM_001354898.2:c.1383T>C | NP_001341827.1:p.Tyr461= | |
| NM_001354899.2:c.1374T>C | NP_001341828.1:p.Tyr458= | |
| NM_001354900.2:c.1335T>C | NP_001341829.1:p.Tyr445= | |
| NM_001354901.2:c.1281T>C | NP_001341830.1:p.Tyr427= | |
| NM_001354902.2:c.1185T>C | NP_001341831.1:p.Tyr395= | |
| NM_001354903.2:c.1155T>C | NP_001341832.1:p.Tyr385= | |
| NM_001354904.2:c.1080T>C | NP_001341833.1:p.Tyr360= | |
| NM_001354905.2:c.978T>C | NP_001341834.1:p.Tyr326= | |
| NM_001354906.2:c.609T>C | NP_001341835.1:p.Tyr203= |