Linked Data
dbSNP Id:
rs10830265
gnomAD v2:
11-89112650-G-A
gnomAD v3:
11-89379482-G-A
gnomAD v4:
11-89379482-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89379482G>A , CM000673.2:g.89379482G>A | GRCh38 |
| NC_000011.9:g.89112650G>A , CM000673.1:g.89112650G>A | GRCh37 |
| NC_000011.8:g.88752298G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263317.9:c.1075-5990C>T MANE Select | ENSP00000263317.4:n.1075-5990C>T | |
| ENST00000263317.8:c.1075-5990C>T | ENSP00000263317.4:n.1075-5990C>T | |
| ENST00000343727.9:c.1003-5990C>T | ENSP00000344747.5:n.1003-5990C>T | |
| ENST00000375979.7:c.154-5990C>T | ENSP00000365146.3:n.154-5990C>T | |
| ENST00000424319.5:c.1003-5990C>T | ENSP00000412446.1:n.1003-5990C>T | |
| ENST00000525196.5:c.630-39311C>T | ENSP00000436716.1:n.630-39311C>T | |
| ENST00000527626.5:c.577-5990C>T | ENSP00000436093.1:n.577-5990C>T | |
| ENST00000527956.5:c.1003-5990C>T | ENSP00000433797.1:n.1003-5990C>T | |
| ENST00000528341.5:c.1000-5990C>T | ENSP00000436970.1:n.1000-5990C>T | |
| ENST00000529343.5:c.630-5990C>T | ENSP00000435474.1:n.630-5990C>T | |
| ENST00000531342.5:c.154-5990C>T | ENSP00000435039.1:n.154-5990C>T | |
| ENST00000532825.5:c.1003-5990C>T | ENSP00000434924.1:n.1003-5990C>T | |
| ENST00000534731.5:c.1075-5990C>T | ENSP00000436892.1:n.1075-5990C>T | |
| NM_001143836.2:c.1075-5990C>T | NP_001137308.1:n.1075-5990C>T | |
| NM_001143837.1:c.1003-5990C>T | NP_001137309.1:n.1003-5990C>T | |
| NM_001291926.1:c.853-5990C>T | NP_001278855.1:n.853-5990C>T | |
| NM_001291927.1:c.1138-5990C>T | NP_001278856.1:n.1138-5990C>T | |
| NM_001291929.1:c.1000-5990C>T | NP_001278858.1:n.1000-5990C>T | |
| NM_001300995.1:c.1003-5990C>T | NP_001287924.1:n.1003-5990C>T | |
| NM_016931.4:c.1075-5990C>T | NP_058627.1:n.1075-5990C>T | |
| XM_006718849.2:c.1138-5990C>T | XP_006718912.1:n.1138-5990C>T | |
| XM_011542857.1:c.1003-5990C>T | XP_011541159.1:n.1003-5990C>T | |
| XM_011542858.1:c.1003-5990C>T | XP_011541160.1:n.1003-5990C>T | |
| XM_011542859.1:c.853-5990C>T | XP_011541161.1:n.853-5990C>T | |
| XM_006718849.4:c.1138-5990C>T | XP_006718912.1:n.1138-5990C>T | |
| XM_011542857.2:c.1003-5990C>T | XP_011541159.1:n.1003-5990C>T | |
| XM_017017841.2:c.1057-5990C>T | XP_016873330.1:n.1057-5990C>T | |
| XM_017017842.1:c.604-5990C>T | XP_016873331.1:n.604-5990C>T | |
| XM_017017843.2:c.1138-5990C>T | XP_016873332.1:n.1138-5990C>T | |
| XM_017017844.1:c.577-5990C>T | XP_016873333.1:n.577-5990C>T | |
| XM_017017845.1:c.577-5990C>T | XP_016873334.1:n.577-5990C>T | |
| NM_016931.5:c.1075-5990C>T MANE Select | NP_058627.2:n.1075-5990C>T | |
| NM_001143836.3:c.1075-5990C>T | NP_001137308.2:n.1075-5990C>T | |
| NM_001143837.2:c.1003-5990C>T | NP_001137309.2:n.1003-5990C>T | |
| NM_001291926.2:c.853-5990C>T | NP_001278855.2:n.853-5990C>T | |
| NM_001291929.2:c.1000-5990C>T | NP_001278858.2:n.1000-5990C>T |