Linked Data
dbSNP Id:
rs76253315
gnomAD v2:
4-185690592-G-A
gnomAD v3:
4-184769438-G-A
gnomAD v4:
4-184769438-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.184769438G>A , CM000666.2:g.184769438G>A | GRCh38 |
| NC_000004.11:g.185690592G>A , CM000666.1:g.185690592G>A | GRCh37 |
| NC_000004.10:g.185927586G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503407.6:c.993+961C>T | ENSP00000425098.2:n.993+961C>T | |
| ENST00000505492.2:c.916-988C>T | ENSP00000425640.2:n.916-988C>T | |
| ENST00000706366.1:c.993+817C>T | ENSP00000516351.1:n.993+817C>T | |
| ENST00000706367.1:c.993+961C>T | ENSP00000516352.1:n.993+961C>T | |
| ENST00000706368.1:c.993+817C>T | ENSP00000516353.1:n.993+817C>T | |
| ENST00000706369.1:c.993+961C>T | ENSP00000516354.1:n.993+961C>T | |
| ENST00000706370.1:c.993+961C>T | ENSP00000516355.1:n.993+961C>T | |
| ENST00000281455.7:c.993+961C>T MANE Select | ENSP00000281455.2:n.993+961C>T | |
| ENST00000281455.6:c.993+961C>T | ENSP00000281455.2:n.993+961C>T | |
| ENST00000454703.6:c.480+961C>T | ENSP00000407165.2:n.480+961C>T | |
| ENST00000504342.5:c.993+961C>T | ENSP00000425006.1:n.993+961C>T | |
| ENST00000504900.5:c.993+961C>T | ENSP00000424935.1:n.993+961C>T | |
| ENST00000505492.1:c.158-988C>T | ||
| ENST00000506733.5:c.*747+961C>T | ENSP00000426491.1:n.*747+961C>T | |
| ENST00000507295.5:c.891+961C>T | ENSP00000426244.1:n.891+961C>T | |
| ENST00000513317.5:c.993+817C>T | ENSP00000426150.1:n.993+817C>T | |
| ENST00000515030.5:c.993+961C>T | ENSP00000422607.1:n.993+961C>T | |
| ENST00000622937.3:c.480+961C>T | ENSP00000485264.1:n.480+961C>T | |
| NM_001286708.1:c.993+961C>T | NP_001273637.1:n.993+961C>T | |
| NM_001286710.1:c.993+817C>T | NP_001273639.1:n.993+817C>T | |
| NM_001286711.1:c.891+961C>T | NP_001273640.1:n.891+961C>T | |
| NM_001286712.1:c.480+961C>T | NP_001273641.1:n.480+961C>T | |
| NM_001995.3:c.993+961C>T | NP_001986.2:n.993+961C>T | |
| XM_005262828.1:c.993+961C>T | XP_005262885.1:n.993+961C>T | |
| XM_005262829.1:c.993+961C>T | XP_005262886.1:n.993+961C>T | |
| XM_005262831.1:c.993+961C>T | XP_005262888.1:n.993+961C>T | |
| XM_011531740.1:c.993+961C>T | XP_011530042.1:n.993+961C>T | |
| XM_011531741.1:c.993+817C>T | XP_011530043.1:n.993+817C>T | |
| XM_011531742.1:c.993+961C>T | XP_011530044.1:n.993+961C>T | |
| XM_011531743.1:c.135+961C>T | XP_011530045.1:n.135+961C>T | |
| XM_017007887.1:c.993+961C>T | XP_016863376.1:n.993+961C>T | |
| XM_017007888.2:c.993+817C>T | XP_016863377.1:n.993+817C>T | |
| XM_017007889.1:c.993+817C>T | XP_016863378.1:n.993+817C>T | |
| NM_001995.4:c.993+961C>T | NP_001986.2:n.993+961C>T | |
| NM_001286708.2:c.993+961C>T | NP_001273637.1:n.993+961C>T | |
| NM_001286710.2:c.993+817C>T | NP_001273639.1:n.993+817C>T | |
| NM_001286711.2:c.891+961C>T | NP_001273640.1:n.891+961C>T | |
| NM_001381877.1:c.993+961C>T | NP_001368806.1:n.993+961C>T | |
| NM_001381878.1:c.993+961C>T | NP_001368807.1:n.993+961C>T | |
| NM_001381879.1:c.993+961C>T | NP_001368808.1:n.993+961C>T | |
| NM_001381880.1:c.993+961C>T | NP_001368809.1:n.993+961C>T | |
| NM_001381881.1:c.993+961C>T | NP_001368810.1:n.993+961C>T | |
| NM_001381882.1:c.993+961C>T | NP_001368811.1:n.993+961C>T | |
| NM_001381883.1:c.993+961C>T | NP_001368812.1:n.993+961C>T | |
| NM_001381884.1:c.993+817C>T | NP_001368813.1:n.993+817C>T | |
| NM_001381885.1:c.993+817C>T | NP_001368814.1:n.993+817C>T | |
| NM_001381886.1:c.993+817C>T | NP_001368815.1:n.993+817C>T | |
| NM_001381887.1:c.993+817C>T | NP_001368816.1:n.993+817C>T | |
| NM_001381888.1:c.846+961C>T | NP_001368817.1:n.846+961C>T | |
| NM_001381889.1:c.846+961C>T | NP_001368818.1:n.846+961C>T | |
| NM_001381890.1:c.801+961C>T | NP_001368819.1:n.801+961C>T | |
| NM_001995.5:c.993+961C>T MANE Select | NP_001986.2:n.993+961C>T | |
| NR_167698.1:n.1400+961C>T | ||
| NR_167702.1:n.851+817C>T | ||
| NR_167703.1:n.851+961C>T | ||
| NR_167704.1:n.861+961C>T | ||
| NR_167705.1:n.1088+961C>T | ||
| NR_167706.1:n.1124+961C>T | ||
| NR_167708.1:n.1275+961C>T | ||
| NR_167709.1:n.1062+961C>T |