Linked Data
dbSNP Id:
rs4624606
gnomAD v2:
3-190354246-A-T
gnomAD v3:
3-190636457-A-T
gnomAD v4:
3-190636457-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190636457A>T , CM000665.2:g.190636457A>T | GRCh38 |
| NC_000003.11:g.190354246A>T , CM000665.1:g.190354246A>T | GRCh37 |
| NC_000003.10:g.191836940A>T | NCBI36 |
| NG_029105.1:g.127407A>T | |
| NG_029105.2:g.127407A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317757.8:c.1051+6959A>T | ENSP00000314807.3:n.1051+6959A>T | |
| ENST00000439062.6:c.1051+6959A>T | ENSP00000401132.1:n.1051+6959A>T | |
| ENST00000447382.6:c.1051+6959A>T MANE Select | ENSP00000390541.1:n.1051+6959A>T | |
| ENST00000072516.7:c.1051+6959A>T | ENSP00000072516.3:n.1051+6959A>T | |
| ENST00000317757.7:c.1051+6959A>T | ENSP00000314807.3:n.1051+6959A>T | |
| ENST00000342550.6:c.903-7791A>T | ENSP00000345829.2:n.903-7791A>T | |
| ENST00000412504.6:c.1051+6959A>T | ENSP00000412053.2:n.1051+6959A>T | |
| ENST00000413869.5:c.903-7791A>T | ENSP00000416296.1:n.903-7791A>T | |
| ENST00000439062.5:c.1051+6959A>T | ENSP00000401132.1:n.1051+6959A>T | |
| ENST00000443369.6:c.1051+6959A>T | ENSP00000408893.2:n.1051+6959A>T | |
| ENST00000447382.5:c.1051+6959A>T | ENSP00000390541.1:n.1051+6959A>T | |
| NM_001167928.1:c.1051+6959A>T | NP_001161400.1:n.1051+6959A>T | |
| NM_001167929.1:c.1051+6959A>T | NP_001161401.1:n.1051+6959A>T | |
| NM_001167931.1:c.1051+6959A>T | NP_001161403.1:n.1051+6959A>T | |
| NM_002182.3:c.1051+6959A>T | NP_002173.1:n.1051+6959A>T | |
| XM_005247433.2:c.1051+6959A>T | XP_005247490.1:n.1051+6959A>T | |
| XM_005247434.3:c.469+6959A>T | XP_005247491.1:n.469+6959A>T | |
| XM_011512794.1:c.1051+6959A>T | XP_011511096.1:n.1051+6959A>T | |
| NM_001364879.1:c.1051+6959A>T | NP_001351808.1:n.1051+6959A>T | |
| NM_001364881.1:c.1051+6959A>T | NP_001351810.1:n.1051+6959A>T | |
| NR_157352.1:n.1126-7791A>T | ||
| NR_157353.1:n.1039-7791A>T | ||
| XM_017006348.2:c.469+6959A>T | XP_016861837.1:n.469+6959A>T | |
| NM_002182.4:c.1051+6959A>T MANE Select | NP_002173.1:n.1051+6959A>T | |
| NM_001167928.2:c.1051+6959A>T | NP_001161400.1:n.1051+6959A>T | |
| NM_001167929.2:c.1051+6959A>T | NP_001161401.1:n.1051+6959A>T | |
| NM_001167931.2:c.1051+6959A>T | NP_001161403.1:n.1051+6959A>T | |
| NM_001364881.2:c.1051+6959A>T | NP_001351810.1:n.1051+6959A>T | |
| NR_157352.2:n.1126-7791A>T | ||
| NR_157353.2:n.1039-7791A>T |