Linked Data
ClinVar Variation Id:
129391
ClinVar RCV Id:
RCV000117398
RCV000353024
RCV001519903
RCV001668241
RCV001730545
RCV001730546
RCV001847700
dbSNP Id:
rs56024577
ExAC:
2:241680802 G / A
gnomAD v2:
2-241680802-G-A
gnomAD v3:
2-240741385-G-A
gnomAD v4:
2-240741385-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240741385G>A , CM000664.2:g.240741385G>A | GRCh38 |
| NC_000002.11:g.241680802G>A , CM000664.1:g.241680802G>A | GRCh37 |
| NC_000002.10:g.241329475G>A | NCBI36 |
| NG_029724.1:g.83823C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320389.12:c.3338-8C>T | ENSP00000322791.8:n.3338-8C>T | |
| ENST00000404283.9:c.3641-8C>T | ENSP00000384231.5:n.3641-8C>T | |
| ENST00000431776.6:c.410-8C>T | ENSP00000414613.2:n.410-8C>T | |
| ENST00000492812.6:n.803-8C>T | ||
| ENST00000498729.9:c.3641-8C>T MANE Select | ENSP00000438388.1:n.3641-8C>T | |
| ENST00000647731.1:c.3338-8C>T | ENSP00000498099.1:n.3338-8C>T | |
| ENST00000647885.1:c.3338-8C>T | ENSP00000497739.1:n.3338-8C>T | |
| ENST00000648047.1:c.2576-8C>T | ENSP00000497935.1:n.2576-8C>T | |
| ENST00000648129.1:c.3614-8C>T | ENSP00000497293.1:n.3614-8C>T | |
| ENST00000648364.1:c.3365-8C>T | ENSP00000498196.1:n.3365-8C>T | |
| ENST00000648680.1:c.3365-8C>T | ENSP00000497586.1:n.3365-8C>T | |
| ENST00000649064.1:n.3496-8C>T | ||
| ENST00000649096.1:c.3338-8C>T | ENSP00000497030.1:n.3338-8C>T | |
| ENST00000649190.1:n.2635-8C>T | ||
| ENST00000649306.1:c.3440-8C>T | ENSP00000497678.1:n.3440-8C>T | |
| ENST00000650053.1:c.3338-8C>T | ENSP00000497824.1:n.3338-8C>T | |
| ENST00000650130.1:c.3614-8C>T | ENSP00000498082.1:n.3614-8C>T | |
| ENST00000650430.1:n.2713-8C>T | ||
| ENST00000320389.11:c.3338-8C>T | ENSP00000322791.7:n.3338-8C>T | |
| ENST00000404283.7:c.3641-8C>T | ENSP00000384231.3:n.3641-8C>T | |
| ENST00000431776.5:c.109-8C>T | ||
| ENST00000498729.6:c.3641-8C>T | ENSP00000438388.1:n.3641-8C>T | |
| NM_001244008.1:c.3641-8C>T | NP_001230937.1:n.3641-8C>T | |
| NM_004321.6:c.3338-8C>T | NP_004312.2:n.3338-8C>T | |
| XM_005247022.1:c.3641-8C>T | XP_005247079.1:n.3641-8C>T | |
| XM_005247023.1:c.3641-8C>T | XP_005247080.1:n.3641-8C>T | |
| XM_005247024.1:c.3614-8C>T | XP_005247081.1:n.3614-8C>T | |
| XM_005247026.1:c.3365-8C>T | XP_005247083.1:n.3365-8C>T | |
| XM_005247027.1:c.3338-8C>T | XP_005247084.1:n.3338-8C>T | |
| XM_005247028.1:c.3338-8C>T | XP_005247085.1:n.3338-8C>T | |
| XM_006712605.1:c.3614-8C>T | XP_006712668.1:n.3614-8C>T | |
| XM_011511364.1:c.3641-8C>T | XP_011509666.1:n.3641-8C>T | |
| XM_011511365.1:c.3365-8C>T | XP_011509667.1:n.3365-8C>T | |
| XM_011511366.1:c.2636-8C>T | XP_011509668.1:n.2636-8C>T | |
| XM_011511367.1:c.2636-8C>T | XP_011509669.1:n.2636-8C>T | |
| NM_001320705.1:c.3365-8C>T | NP_001307634.1:n.3365-8C>T | |
| NM_001330289.1:c.3365-8C>T | NP_001317218.1:n.3365-8C>T | |
| NM_001330290.1:c.3440-8C>T | NP_001317219.1:n.3440-8C>T | |
| NM_004321.7:c.3338-8C>T | NP_004312.2:n.3338-8C>T | |
| NM_001320705.2:c.3365-8C>T | NP_001307634.1:n.3365-8C>T | |
| NM_001330289.2:c.3365-8C>T | NP_001317218.1:n.3365-8C>T | |
| NM_001330290.2:c.3440-8C>T | NP_001317219.1:n.3440-8C>T | |
| NM_001244008.2:c.3641-8C>T MANE Select | NP_001230937.1:n.3641-8C>T | |
| NM_001379631.1:c.3716-8C>T | NP_001366560.1:n.3716-8C>T | |
| NM_001379632.1:c.3590-8C>T | NP_001366561.1:n.3590-8C>T | |
| NM_001379633.1:c.3614-8C>T | NP_001366562.1:n.3614-8C>T | |
| NM_001379634.1:c.3440-8C>T | NP_001366563.1:n.3440-8C>T | |
| NM_001379635.1:c.3440-8C>T | NP_001366564.1:n.3440-8C>T | |
| NM_001379636.1:c.3338-8C>T | NP_001366565.1:n.3338-8C>T | |
| NM_001379637.1:c.3413-8C>T | NP_001366566.1:n.3413-8C>T | |
| NM_001379638.1:c.3365-8C>T | NP_001366567.1:n.3365-8C>T | |
| NM_001379639.1:c.3338-8C>T | NP_001366568.1:n.3338-8C>T | |
| NM_001379640.1:c.3335-8C>T | NP_001366569.1:n.3335-8C>T | |
| NM_001379641.1:c.3338-8C>T | NP_001366570.1:n.3338-8C>T | |
| NM_001379642.1:c.3614-8C>T | NP_001366571.1:n.3614-8C>T | |
| NM_001379645.1:c.3614-8C>T | NP_001366574.1:n.3614-8C>T | |
| NM_001379646.1:c.3440-8C>T | NP_001366575.1:n.3440-8C>T | |
| NM_001379648.1:c.3413-8C>T | NP_001366577.1:n.3413-8C>T | |
| NM_001379649.1:c.3338-8C>T | NP_001366578.1:n.3338-8C>T | |
| NM_001379650.1:c.3338-8C>T | NP_001366579.1:n.3338-8C>T | |
| NM_001379651.1:c.3338-8C>T | NP_001366580.1:n.3338-8C>T | |
| NM_001379653.1:c.3338-8C>T | NP_001366582.1:n.3338-8C>T | |
| NM_004321.8:c.3338-8C>T | NP_004312.2:n.3338-8C>T |