Linked Data
dbSNP Id:
rs2298999
gnomAD v2:
4-110911907-T-C
gnomAD v3:
4-109990751-T-C
gnomAD v4:
4-109990751-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109990751T>C , CM000666.2:g.109990751T>C | GRCh38 |
| NC_000004.11:g.110911907T>C , CM000666.1:g.110911907T>C | GRCh37 |
| NC_000004.10:g.111131356T>C | NCBI36 |
| NG_011441.1:g.82868T>C | |
| NG_011441.2:g.82868T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265171.10:c.2734+2042T>C MANE Select | ENSP00000265171.5:n.2734+2042T>C | |
| ENST00000652245.1:c.2366-2496T>C | ENSP00000498337.1:n.2366-2496T>C | |
| ENST00000265171.9:c.2734+2042T>C | ENSP00000265171.5:n.2734+2042T>C | |
| ENST00000503392.1:c.2734+2042T>C | ENSP00000421384.1:n.2734+2042T>C | |
| ENST00000509793.5:c.2608+2042T>C | ENSP00000424316.1:n.2608+2042T>C | |
| ENST00000509996.1:n.420-2496T>C | ||
| NM_001178130.1:c.2734+2042T>C | NP_001171601.1:n.2734+2042T>C | |
| NM_001178131.1:c.2608+2042T>C | NP_001171602.1:n.2608+2042T>C | |
| NM_001963.4:c.2734+2042T>C | NP_001954.2:n.2734+2042T>C | |
| XM_005262796.2:c.2734+2042T>C | XP_005262853.1:n.2734+2042T>C | |
| XM_005262797.2:c.2608+2042T>C | XP_005262854.1:n.2608+2042T>C | |
| XM_005262798.2:c.2492-2496T>C | XP_005262855.1:n.2492-2496T>C | |
| XM_005262800.2:c.2492-2496T>C | XP_005262857.1:n.2492-2496T>C | |
| XM_005262801.2:c.2491+7210T>C | XP_005262858.1:n.2491+7210T>C | |
| XM_006714124.2:c.2734+2042T>C | XP_006714187.1:n.2734+2042T>C | |
| XM_011531707.1:c.2623+2042T>C | XP_011530009.1:n.2623+2042T>C | |
| XM_011531708.1:c.2734+2042T>C | XP_011530010.1:n.2734+2042T>C | |
| XR_427532.2:n.3187+2042T>C | ||
| XR_938699.1:n.3187+2042T>C | ||
| NM_001178130.2:c.2734+2042T>C | NP_001171601.1:n.2734+2042T>C | |
| NM_001178131.2:c.2608+2042T>C | NP_001171602.1:n.2608+2042T>C | |
| NM_001357021.1:c.2366-2496T>C | NP_001343950.1:n.2366-2496T>C | |
| NM_001963.5:c.2734+2042T>C | NP_001954.2:n.2734+2042T>C | |
| XM_017007845.1:c.2758+2042T>C | XP_016863334.1:n.2758+2042T>C | |
| XM_017007846.1:c.2758+2042T>C | XP_016863335.1:n.2758+2042T>C | |
| XM_017007847.1:c.2758+2042T>C | XP_016863336.1:n.2758+2042T>C | |
| XM_017007848.1:c.2632+2042T>C | XP_016863337.1:n.2632+2042T>C | |
| XM_017007849.1:c.2516-2496T>C | XP_016863338.1:n.2516-2496T>C | |
| XM_017007850.1:c.2758+2042T>C | XP_016863339.1:n.2758+2042T>C | |
| XM_017007851.1:c.2516-2496T>C | XP_016863340.1:n.2516-2496T>C | |
| XM_017007853.1:c.2758+2042T>C | XP_016863342.1:n.2758+2042T>C | |
| XR_001741156.1:n.3211+2042T>C | ||
| XR_001741157.1:n.3211+2042T>C | ||
| NM_001178130.3:c.2734+2042T>C | NP_001171601.1:n.2734+2042T>C | |
| NM_001178131.3:c.2608+2042T>C | NP_001171602.1:n.2608+2042T>C | |
| NM_001357021.2:c.2366-2496T>C | NP_001343950.1:n.2366-2496T>C | |
| NM_001963.6:c.2734+2042T>C MANE Select | NP_001954.2:n.2734+2042T>C |