Linked Data
ClinVar Variation Id:
428160
dbSNP Id:
rs1114167599
gnomAD v4:
5-112827248-G-T
COSMIC:
COSM18790
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112827248G>T , CM000667.2:g.112827248G>T | GRCh38 |
| NC_000005.9:g.112162945G>T , CM000667.1:g.112162945G>T | GRCh37 |
| NC_000005.8:g.112190844G>T | NCBI36 |
| NG_008481.4:g.139728G>T , LRG_130:g.139728G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1408+5257G>T | ENSP00000484935.2:n.1408+5257G>T | |
| ENST00000504915.3:c.1602+1G>T | ENSP00000473355.2:n.1602+1G>T | |
| ENST00000505084.2:n.1604+1G>T | ||
| ENST00000505350.2:c.*1554+1G>T | ENSP00000481752.1:n.*1554+1G>T | |
| ENST00000507379.6:c.1494+1G>T | ENSP00000423224.2:n.1494+1G>T | |
| ENST00000509732.6:c.1548+1G>T | ENSP00000426541.2:n.1548+1G>T | |
| ENST00000512211.7:c.1548+1G>T | ENSP00000423828.3:n.1548+1G>T | |
| ENST00000257430.9:c.1548+1G>T MANE Select | ENSP00000257430.4:n.1548+1G>T | |
| ENST00000257430.8:c.1548+1G>T | ENSP00000257430.4:n.1548+1G>T | |
| ENST00000502371.2:c.96+5257G>T | ||
| ENST00000504915.2:c.237+1G>T | ENSP00000473355.1:n.237+1G>T | |
| ENST00000505084.1:n.35+1G>T | ||
| ENST00000507379.5:c.1494+1G>T | ENSP00000423224.1:n.1494+1G>T | |
| ENST00000508376.6:c.1548+1G>T | ENSP00000427089.2:n.1548+1G>T | |
| ENST00000508624.5:c.*870+1G>T | ENSP00000424265.1:n.*870+1G>T | |
| ENST00000512211.6:c.1548+1G>T | ENSP00000423828.2:n.1548+1G>T | |
| ENST00000520401.1:c.35+1G>T | ||
| NM_000038.5:c.1548+1G>T | NP_000029.2:n.1548+1G>T | |
| NM_001127510.2:c.1548+1G>T | NP_001120982.1:n.1548+1G>T | |
| NM_001127511.2:c.1494+1G>T | NP_001120983.2:n.1494+1G>T | |
| NM_001354895.1:c.1548+1G>T | NP_001341824.1:n.1548+1G>T | |
| NM_001354896.1:c.1602+1G>T | NP_001341825.1:n.1602+1G>T | |
| NM_001354897.1:c.1578+1G>T | NP_001341826.1:n.1578+1G>T | |
| NM_001354898.1:c.1473+1G>T | NP_001341827.1:n.1473+1G>T | |
| NM_001354899.1:c.1464+1G>T | NP_001341828.1:n.1464+1G>T | |
| NM_001354900.1:c.1425+1G>T | NP_001341829.1:n.1425+1G>T | |
| NM_001354901.1:c.1371+1G>T | NP_001341830.1:n.1371+1G>T | |
| NM_001354902.1:c.1275+1G>T | NP_001341831.1:n.1275+1G>T | |
| NM_001354903.1:c.1245+1G>T | NP_001341832.1:n.1245+1G>T | |
| NM_001354904.1:c.1170+1G>T | NP_001341833.1:n.1170+1G>T | |
| NM_001354905.1:c.1068+1G>T | NP_001341834.1:n.1068+1G>T | |
| NM_001354906.1:c.699+1G>T | NP_001341835.1:n.699+1G>T | |
| NM_000038.6:c.1548+1G>T MANE Select | NP_000029.2:n.1548+1G>T | |
| NM_001127510.3:c.1548+1G>T | NP_001120982.1:n.1548+1G>T | |
| NM_001127511.3:c.1494+1G>T | NP_001120983.2:n.1494+1G>T | |
| NM_001354895.2:c.1548+1G>T | NP_001341824.1:n.1548+1G>T | |
| NM_001354896.2:c.1602+1G>T | NP_001341825.1:n.1602+1G>T | |
| NM_001354897.2:c.1578+1G>T | NP_001341826.1:n.1578+1G>T | |
| NM_001354898.2:c.1473+1G>T | NP_001341827.1:n.1473+1G>T | |
| NM_001354899.2:c.1464+1G>T | NP_001341828.1:n.1464+1G>T | |
| NM_001354900.2:c.1425+1G>T | NP_001341829.1:n.1425+1G>T | |
| NM_001354901.2:c.1371+1G>T | NP_001341830.1:n.1371+1G>T | |
| NM_001354902.2:c.1275+1G>T | NP_001341831.1:n.1275+1G>T | |
| NM_001354903.2:c.1245+1G>T | NP_001341832.1:n.1245+1G>T | |
| NM_001354904.2:c.1170+1G>T | NP_001341833.1:n.1170+1G>T | |
| NM_001354905.2:c.1068+1G>T | NP_001341834.1:n.1068+1G>T | |
| NM_001354906.2:c.699+1G>T | NP_001341835.1:n.699+1G>T |