Linked Data
ClinVar Variation Id:
381126
dbSNP Id:
rs766973462
ExAC:
5:112164675 T / C
gnomAD v2:
5-112164675-T-C
gnomAD v4:
5-112828978-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112828978T>C , CM000667.2:g.112828978T>C | GRCh38 |
| NC_000005.9:g.112164675T>C , CM000667.1:g.112164675T>C | GRCh37 |
| NC_000005.8:g.112192574T>C | NCBI36 |
| NG_008481.4:g.141458T>C , LRG_130:g.141458T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1409-5973T>C | ENSP00000484935.2:n.1409-5973T>C | |
| ENST00000504915.3:c.1797+6T>C | ENSP00000473355.2:n.1797+6T>C | |
| ENST00000505084.2:n.1805T>C | ||
| ENST00000505350.2:c.*1749+6T>C | ENSP00000481752.1:n.*1749+6T>C | |
| ENST00000507379.6:c.1689+6T>C | ENSP00000423224.2:n.1689+6T>C | |
| ENST00000509732.6:c.1743+6T>C | ENSP00000426541.2:n.1743+6T>C | |
| ENST00000512211.7:c.1743+6T>C | ENSP00000423828.3:n.1743+6T>C | |
| ENST00000257430.9:c.1743+6T>C MANE Select | ENSP00000257430.4:n.1743+6T>C | |
| ENST00000257430.8:c.1743+6T>C | ENSP00000257430.4:n.1743+6T>C | |
| ENST00000502371.2:c.97-5973T>C | ||
| ENST00000504915.2:c.432+6T>C | ENSP00000473355.1:n.432+6T>C | |
| ENST00000505084.1:n.236T>C | ||
| ENST00000507379.5:c.1689+6T>C | ENSP00000423224.1:n.1689+6T>C | |
| ENST00000508376.6:c.1743+6T>C | ENSP00000427089.2:n.1743+6T>C | |
| ENST00000508624.5:c.*1065+6T>C | ENSP00000424265.1:n.*1065+6T>C | |
| ENST00000512211.6:c.1743+6T>C | ENSP00000423828.2:n.1743+6T>C | |
| ENST00000520401.1:c.230+6T>C | ||
| NM_000038.5:c.1743+6T>C | NP_000029.2:n.1743+6T>C | |
| NM_001127510.2:c.1743+6T>C | NP_001120982.1:n.1743+6T>C | |
| NM_001127511.2:c.1689+6T>C | NP_001120983.2:n.1689+6T>C | |
| NM_001354895.1:c.1743+6T>C | NP_001341824.1:n.1743+6T>C | |
| NM_001354896.1:c.1797+6T>C | NP_001341825.1:n.1797+6T>C | |
| NM_001354897.1:c.1773+6T>C | NP_001341826.1:n.1773+6T>C | |
| NM_001354898.1:c.1668+6T>C | NP_001341827.1:n.1668+6T>C | |
| NM_001354899.1:c.1659+6T>C | NP_001341828.1:n.1659+6T>C | |
| NM_001354900.1:c.1620+6T>C | NP_001341829.1:n.1620+6T>C | |
| NM_001354901.1:c.1566+6T>C | NP_001341830.1:n.1566+6T>C | |
| NM_001354902.1:c.1470+6T>C | NP_001341831.1:n.1470+6T>C | |
| NM_001354903.1:c.1440+6T>C | NP_001341832.1:n.1440+6T>C | |
| NM_001354904.1:c.1365+6T>C | NP_001341833.1:n.1365+6T>C | |
| NM_001354905.1:c.1263+6T>C | NP_001341834.1:n.1263+6T>C | |
| NM_001354906.1:c.894+6T>C | NP_001341835.1:n.894+6T>C | |
| NM_000038.6:c.1743+6T>C MANE Select | NP_000029.2:n.1743+6T>C | |
| NM_001127510.3:c.1743+6T>C | NP_001120982.1:n.1743+6T>C | |
| NM_001127511.3:c.1689+6T>C | NP_001120983.2:n.1689+6T>C | |
| NM_001354895.2:c.1743+6T>C | NP_001341824.1:n.1743+6T>C | |
| NM_001354896.2:c.1797+6T>C | NP_001341825.1:n.1797+6T>C | |
| NM_001354897.2:c.1773+6T>C | NP_001341826.1:n.1773+6T>C | |
| NM_001354898.2:c.1668+6T>C | NP_001341827.1:n.1668+6T>C | |
| NM_001354899.2:c.1659+6T>C | NP_001341828.1:n.1659+6T>C | |
| NM_001354900.2:c.1620+6T>C | NP_001341829.1:n.1620+6T>C | |
| NM_001354901.2:c.1566+6T>C | NP_001341830.1:n.1566+6T>C | |
| NM_001354902.2:c.1470+6T>C | NP_001341831.1:n.1470+6T>C | |
| NM_001354903.2:c.1440+6T>C | NP_001341832.1:n.1440+6T>C | |
| NM_001354904.2:c.1365+6T>C | NP_001341833.1:n.1365+6T>C | |
| NM_001354905.2:c.1263+6T>C | NP_001341834.1:n.1263+6T>C | |
| NM_001354906.2:c.894+6T>C | NP_001341835.1:n.894+6T>C |