Linked Data
dbSNP Id:
rs10513854
gnomAD v2:
3-190305874-C-T
gnomAD v3:
3-190588085-C-T
gnomAD v4:
3-190588085-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190588085C>T , CM000665.2:g.190588085C>T | GRCh38 |
| NC_000003.11:g.190305874C>T , CM000665.1:g.190305874C>T | GRCh37 |
| NC_000003.10:g.191788568C>T | NCBI36 |
| NG_029105.1:g.79035C>T | |
| NG_029105.2:g.79035C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317757.8:c.65-16043C>T | ENSP00000314807.3:n.65-16043C>T | |
| ENST00000439062.6:c.65-16043C>T | ENSP00000401132.1:n.65-16043C>T | |
| ENST00000447382.6:c.65-16043C>T MANE Select | ENSP00000390541.1:n.65-16043C>T | |
| ENST00000072516.7:c.65-16043C>T | ENSP00000072516.3:n.65-16043C>T | |
| ENST00000317757.7:c.65-16043C>T | ENSP00000314807.3:n.65-16043C>T | |
| ENST00000342550.6:c.65-16043C>T | ENSP00000345829.2:n.65-16043C>T | |
| ENST00000412504.6:c.65-16043C>T | ENSP00000412053.2:n.65-16043C>T | |
| ENST00000413869.5:c.65-16043C>T | ENSP00000416296.1:n.65-16043C>T | |
| ENST00000422485.5:c.65-16043C>T | ENSP00000409352.1:n.65-16043C>T | |
| ENST00000422625.5:c.65-16043C>T | ENSP00000389149.1:n.65-16043C>T | |
| ENST00000422940.5:c.65-16043C>T | ENSP00000387371.1:n.65-16043C>T | |
| ENST00000434491.5:c.-73-20910C>T | ENSP00000391899.1:n.-73-20910C>T | |
| ENST00000439062.5:c.65-16043C>T | ENSP00000401132.1:n.65-16043C>T | |
| ENST00000443369.6:c.65-16043C>T | ENSP00000408893.2:n.65-16043C>T | |
| ENST00000447382.5:c.65-16043C>T | ENSP00000390541.1:n.65-16043C>T | |
| ENST00000453359.5:c.65-16043C>T | ENSP00000412008.1:n.65-16043C>T | |
| NM_001167928.1:c.65-16043C>T | NP_001161400.1:n.65-16043C>T | |
| NM_001167929.1:c.65-16043C>T | NP_001161401.1:n.65-16043C>T | |
| NM_001167930.1:c.65-16043C>T | NP_001161402.1:n.65-16043C>T | |
| NM_001167931.1:c.65-16043C>T | NP_001161403.1:n.65-16043C>T | |
| NM_002182.3:c.65-16043C>T | NP_002173.1:n.65-16043C>T | |
| NM_134470.3:c.65-16043C>T | NP_608273.1:n.65-16043C>T | |
| XM_005247433.2:c.65-16043C>T | XP_005247490.1:n.65-16043C>T | |
| XM_011512794.1:c.65-16043C>T | XP_011511096.1:n.65-16043C>T | |
| NM_001364879.1:c.65-16043C>T | NP_001351808.1:n.65-16043C>T | |
| NM_001364880.1:c.65-16043C>T | NP_001351809.1:n.65-16043C>T | |
| NM_001364881.1:c.65-16043C>T | NP_001351810.1:n.65-16043C>T | |
| NR_157352.1:n.288-16043C>T | ||
| NR_157353.1:n.201-16043C>T | ||
| NM_002182.4:c.65-16043C>T MANE Select | NP_002173.1:n.65-16043C>T | |
| NM_001167928.2:c.65-16043C>T | NP_001161400.1:n.65-16043C>T | |
| NM_001167929.2:c.65-16043C>T | NP_001161401.1:n.65-16043C>T | |
| NM_001167930.2:c.65-16043C>T | NP_001161402.1:n.65-16043C>T | |
| NM_001167931.2:c.65-16043C>T | NP_001161403.1:n.65-16043C>T | |
| NM_001364880.2:c.65-16043C>T | NP_001351809.1:n.65-16043C>T | |
| NM_001364881.2:c.65-16043C>T | NP_001351810.1:n.65-16043C>T | |
| NM_134470.4:c.65-16043C>T | NP_608273.1:n.65-16043C>T | |
| NR_157352.2:n.288-16043C>T | ||
| NR_157353.2:n.201-16043C>T |