Linked Data
ClinVar Variation Id:
348749
dbSNP Id:
rs750722358
ExAC:
4:39269726 C / T
gnomAD v2:
4-39269726-C-T
gnomAD v3:
4-39268106-C-T
gnomAD v4:
4-39268106-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39268106C>T , CM000666.2:g.39268106C>T | GRCh38 |
| NC_000004.11:g.39269726C>T , CM000666.1:g.39269726C>T | GRCh37 |
| NC_000004.10:g.38946121C>T | NCBI36 |
| NG_031813.1:g.90703C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.3358+15C>T MANE Select | ENSP00000382717.3:n.3358+15C>T | |
| ENST00000399820.7:c.3358+15C>T | ENSP00000382717.3:n.3358+15C>T | |
| ENST00000506869.5:c.*2939+15C>T | ENSP00000424319.1:n.*2939+15C>T | |
| ENST00000512095.5:n.2356+15C>T | ||
| NM_025132.3:c.3358+15C>T | NP_079408.3:n.3358+15C>T | |
| XM_011513724.1:c.3370+15C>T | XP_011512026.1:n.3370+15C>T | |
| XM_011513725.1:c.3304+15C>T | XP_011512027.1:n.3304+15C>T | |
| XM_011513726.1:c.2890+15C>T | XP_011512028.1:n.2890+15C>T | |
| XM_011513727.1:c.2890+15C>T | XP_011512029.1:n.2890+15C>T | |
| XM_011513728.1:c.2878+15C>T | XP_011512030.1:n.2878+15C>T | |
| XR_925155.1:n.3434+15C>T | ||
| NM_001317924.1:c.2878+15C>T | NP_001304853.1:n.2878+15C>T | |
| XM_011513725.2:c.3304+15C>T | XP_011512027.1:n.3304+15C>T | |
| XM_011513726.3:c.2890+15C>T | XP_011512028.1:n.2890+15C>T | |
| XM_017008501.1:c.2878+15C>T | XP_016863990.1:n.2878+15C>T | |
| XR_001741306.1:n.3434+15C>T | ||
| XR_001741307.1:n.3422+15C>T | ||
| XR_001741308.1:n.3434+15C>T | ||
| XR_001741309.1:n.3422+15C>T | ||
| XR_001741310.1:n.3422+15C>T | ||
| XR_001741311.2:n.3271+15C>T | ||
| NM_025132.4:c.3358+15C>T MANE Select | NP_079408.3:n.3358+15C>T | |
| NM_001317924.2:c.2878+15C>T | NP_001304853.1:n.2878+15C>T |