Linked Data
ClinVar Variation Id:
1383830
ClinVar RCV Id:
RCV001895539
dbSNP Id:
rs1173881899
gnomAD v2:
2-241658419-G-A
gnomAD v4:
2-240719002-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240719002G>A , CM000664.2:g.240719002G>A | GRCh38 |
| NC_000002.11:g.241658419G>A , CM000664.1:g.241658419G>A | GRCh37 |
| NC_000002.10:g.241307092G>A | NCBI36 |
| NG_029724.1:g.106206C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320389.12:c.4935+4C>T | ENSP00000322791.8:n.4935+4C>T | |
| ENST00000404283.9:c.5238+4C>T | ENSP00000384231.5:n.5238+4C>T | |
| ENST00000431776.6:c.2034+4C>T | ENSP00000414613.2:n.2034+4C>T | |
| ENST00000492812.6:n.3797+4C>T | ||
| ENST00000498729.9:c.5214+4C>T MANE Select | ENSP00000438388.1:n.5214+4C>T | |
| ENST00000647731.1:c.4938+4C>T | ENSP00000498099.1:n.4938+4C>T | |
| ENST00000647885.1:c.5025+4C>T | ENSP00000497739.1:n.5025+4C>T | |
| ENST00000648047.1:c.4173+4C>T | ENSP00000497935.1:n.4173+4C>T | |
| ENST00000648129.1:c.5187+4C>T | ENSP00000497293.1:n.5187+4C>T | |
| ENST00000648364.1:c.4938+4C>T | ENSP00000498196.1:n.4938+4C>T | |
| ENST00000648680.1:c.4965+4C>T | ENSP00000497586.1:n.4965+4C>T | |
| ENST00000649096.1:c.4911+4C>T | ENSP00000497030.1:n.4911+4C>T | |
| ENST00000649190.1:n.4208+4C>T | ||
| ENST00000649306.1:c.5013+4C>T | ENSP00000497678.1:n.5013+4C>T | |
| ENST00000650053.1:c.4911+4C>T | ENSP00000497824.1:n.4911+4C>T | |
| ENST00000650130.1:c.5187+4C>T | ENSP00000498082.1:n.5187+4C>T | |
| ENST00000650430.1:n.4286+4C>T | ||
| ENST00000320389.11:c.4911+4C>T | ENSP00000322791.7:n.4911+4C>T | |
| ENST00000460788.5:n.1771+4C>T | ||
| ENST00000492812.5:n.1686+4C>T | ||
| ENST00000498729.6:c.5214+4C>T | ENSP00000438388.1:n.5214+4C>T | |
| NM_001244008.1:c.5214+4C>T | NP_001230937.1:n.5214+4C>T | |
| NM_004321.6:c.4911+4C>T | NP_004312.2:n.4911+4C>T | |
| XM_005247022.1:c.5241+4C>T | XP_005247079.1:n.5241+4C>T | |
| XM_005247023.1:c.5238+4C>T | XP_005247080.1:n.5238+4C>T | |
| XM_005247024.1:c.5214+4C>T | XP_005247081.1:n.5214+4C>T | |
| XM_005247026.1:c.4938+4C>T | XP_005247083.1:n.4938+4C>T | |
| XM_005247027.1:c.4935+4C>T | XP_005247084.1:n.4935+4C>T | |
| XM_005247028.1:c.4911+4C>T | XP_005247085.1:n.4911+4C>T | |
| XM_006712605.1:c.5187+4C>T | XP_006712668.1:n.5187+4C>T | |
| XM_011511364.1:c.5241+4C>T | XP_011509666.1:n.5241+4C>T | |
| XM_011511365.1:c.4965+4C>T | XP_011509667.1:n.4965+4C>T | |
| XM_011511366.1:c.4236+4C>T | XP_011509668.1:n.4236+4C>T | |
| XM_011511367.1:c.4236+4C>T | XP_011509669.1:n.4236+4C>T | |
| NM_001320705.1:c.4938+4C>T | NP_001307634.1:n.4938+4C>T | |
| NM_001330289.1:c.4965+4C>T | NP_001317218.1:n.4965+4C>T | |
| NM_001330290.1:c.5013+4C>T | NP_001317219.1:n.5013+4C>T | |
| NM_004321.7:c.4911+4C>T | NP_004312.2:n.4911+4C>T | |
| NM_001320705.2:c.4938+4C>T | NP_001307634.1:n.4938+4C>T | |
| NM_001330289.2:c.4965+4C>T | NP_001317218.1:n.4965+4C>T | |
| NM_001330290.2:c.5013+4C>T | NP_001317219.1:n.5013+4C>T | |
| NM_001244008.2:c.5214+4C>T MANE Select | NP_001230937.1:n.5214+4C>T | |
| NM_001379631.1:c.5289+4C>T | NP_001366560.1:n.5289+4C>T | |
| NM_001379632.1:c.5190+4C>T | NP_001366561.1:n.5190+4C>T | |
| NM_001379633.1:c.5187+4C>T | NP_001366562.1:n.5187+4C>T | |
| NM_001379634.1:c.5040+4C>T | NP_001366563.1:n.5040+4C>T | |
| NM_001379635.1:c.5037+4C>T | NP_001366564.1:n.5037+4C>T | |
| NM_001379636.1:c.5025+4C>T | NP_001366565.1:n.5025+4C>T | |
| NM_001379637.1:c.4986+4C>T | NP_001366566.1:n.4986+4C>T | |
| NM_001379638.1:c.4962+4C>T | NP_001366567.1:n.4962+4C>T | |
| NM_001379639.1:c.4935+4C>T | NP_001366568.1:n.4935+4C>T | |
| NM_001379640.1:c.4908+4C>T | NP_001366569.1:n.4908+4C>T | |
| NM_001379641.1:c.4875+40C>T | NP_001366570.1:n.4875+40C>T | |
| NM_001379642.1:c.5214+4C>T | NP_001366571.1:n.5214+4C>T | |
| NM_001379645.1:c.5187+4C>T | NP_001366574.1:n.5187+4C>T | |
| NM_001379646.1:c.5037+4C>T | NP_001366575.1:n.5037+4C>T | |
| NM_001379648.1:c.5013+4C>T | NP_001366577.1:n.5013+4C>T | |
| NM_001379649.1:c.4938+4C>T | NP_001366578.1:n.4938+4C>T | |
| NM_001379650.1:c.4911+4C>T | NP_001366579.1:n.4911+4C>T | |
| NM_001379651.1:c.4911+4C>T | NP_001366580.1:n.4911+4C>T | |
| NM_001379653.1:c.4911+4C>T | NP_001366582.1:n.4911+4C>T | |
| NM_004321.8:c.4911+4C>T | NP_004312.2:n.4911+4C>T |