Linked Data
ClinVar Variation Id:
83204
ClinVar RCV Id:
RCV000074195
dbSNP Id:
rs78897872
gnomAD v3:
5-112834387-A-C
gnomAD v4:
5-112834387-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112834387A>C , CM000667.2:g.112834387A>C | GRCh38 |
| NC_000005.9:g.112170084A>C , CM000667.1:g.112170084A>C | GRCh37 |
| NC_000005.8:g.112197983A>C | NCBI36 |
| NG_008481.4:g.146867A>C , LRG_130:g.146867A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502371.3:c.1409-564A>C | ENSP00000484935.2:n.1409-564A>C | |
| ENST00000504915.3:c.1798-564A>C | ENSP00000473355.2:n.1798-564A>C | |
| ENST00000505350.2:c.*1750-564A>C | ENSP00000481752.1:n.*1750-564A>C | |
| ENST00000507379.6:c.1690-564A>C | ENSP00000423224.2:n.1690-564A>C | |
| ENST00000509732.6:c.1744-564A>C | ENSP00000426541.2:n.1744-564A>C | |
| ENST00000512211.7:c.1744-564A>C | ENSP00000423828.3:n.1744-564A>C | |
| ENST00000257430.9:c.1744-564A>C MANE Select | ENSP00000257430.4:n.1744-564A>C | |
| ENST00000257430.8:c.1744-564A>C | ENSP00000257430.4:n.1744-564A>C | |
| ENST00000502371.2:c.97-564A>C | ||
| ENST00000504915.2:c.433-564A>C | ENSP00000473355.1:n.433-564A>C | |
| ENST00000507379.5:c.1690-564A>C | ENSP00000423224.1:n.1690-564A>C | |
| ENST00000508376.6:c.1744-564A>C | ENSP00000427089.2:n.1744-564A>C | |
| ENST00000508624.5:c.*1066-564A>C | ENSP00000424265.1:n.*1066-564A>C | |
| ENST00000512211.6:c.1744-564A>C | ENSP00000423828.2:n.1744-564A>C | |
| ENST00000520401.1:c.230+5415A>C | ||
| NM_000038.5:c.1744-564A>C | NP_000029.2:n.1744-564A>C | |
| NM_001127510.2:c.1744-564A>C | NP_001120982.1:n.1744-564A>C | |
| NM_001127511.2:c.1690-564A>C | NP_001120983.2:n.1690-564A>C | |
| NM_001354895.1:c.1744-564A>C | NP_001341824.1:n.1744-564A>C | |
| NM_001354896.1:c.1798-564A>C | NP_001341825.1:n.1798-564A>C | |
| NM_001354897.1:c.1774-564A>C | NP_001341826.1:n.1774-564A>C | |
| NM_001354898.1:c.1669-564A>C | NP_001341827.1:n.1669-564A>C | |
| NM_001354899.1:c.1660-564A>C | NP_001341828.1:n.1660-564A>C | |
| NM_001354900.1:c.1621-564A>C | NP_001341829.1:n.1621-564A>C | |
| NM_001354901.1:c.1567-564A>C | NP_001341830.1:n.1567-564A>C | |
| NM_001354902.1:c.1471-564A>C | NP_001341831.1:n.1471-564A>C | |
| NM_001354903.1:c.1441-564A>C | NP_001341832.1:n.1441-564A>C | |
| NM_001354904.1:c.1366-564A>C | NP_001341833.1:n.1366-564A>C | |
| NM_001354905.1:c.1264-564A>C | NP_001341834.1:n.1264-564A>C | |
| NM_001354906.1:c.895-564A>C | NP_001341835.1:n.895-564A>C | |
| NM_000038.6:c.1744-564A>C MANE Select | NP_000029.2:n.1744-564A>C | |
| NM_001127510.3:c.1744-564A>C | NP_001120982.1:n.1744-564A>C | |
| NM_001127511.3:c.1690-564A>C | NP_001120983.2:n.1690-564A>C | |
| NM_001354895.2:c.1744-564A>C | NP_001341824.1:n.1744-564A>C | |
| NM_001354896.2:c.1798-564A>C | NP_001341825.1:n.1798-564A>C | |
| NM_001354897.2:c.1774-564A>C | NP_001341826.1:n.1774-564A>C | |
| NM_001354898.2:c.1669-564A>C | NP_001341827.1:n.1669-564A>C | |
| NM_001354899.2:c.1660-564A>C | NP_001341828.1:n.1660-564A>C | |
| NM_001354900.2:c.1621-564A>C | NP_001341829.1:n.1621-564A>C | |
| NM_001354901.2:c.1567-564A>C | NP_001341830.1:n.1567-564A>C | |
| NM_001354902.2:c.1471-564A>C | NP_001341831.1:n.1471-564A>C | |
| NM_001354903.2:c.1441-564A>C | NP_001341832.1:n.1441-564A>C | |
| NM_001354904.2:c.1366-564A>C | NP_001341833.1:n.1366-564A>C | |
| NM_001354905.2:c.1264-564A>C | NP_001341834.1:n.1264-564A>C | |
| NM_001354906.2:c.895-564A>C | NP_001341835.1:n.895-564A>C |