Linked Data
dbSNP Id:
rs11250168
gnomAD v2:
8-11691142-G-T
gnomAD v3:
8-11833633-G-T
gnomAD v4:
8-11833633-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11833633G>T , CM000670.2:g.11833633G>T | GRCh38 |
| NC_000008.10:g.11691142G>T , CM000670.1:g.11691142G>T | GRCh37 |
| NC_000008.9:g.11728551G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000530337.6:c.1032+1963G>T | ENSP00000431852.2:n.1032+1963G>T | |
| ENST00000622850.3:c.840+1963G>T | ENSP00000484122.1:n.840+1963G>T | |
| ENST00000220584.9:c.1032+1963G>T MANE Select | ENSP00000220584.4:n.1032+1963G>T | |
| ENST00000220584.8:c.1032+1963G>T | ENSP00000220584.4:n.1032+1963G>T | |
| ENST00000443614.6:c.903+1963G>T | ENSP00000390367.2:n.903+1963G>T | |
| ENST00000446331.6:n.735+1963G>T | ||
| ENST00000525607.5:c.*1091+1963G>T | ENSP00000432551.1:n.*1091+1963G>T | |
| ENST00000525777.5:c.777+1963G>T | ENSP00000436069.1:n.777+1963G>T | |
| ENST00000525900.5:c.1011+1963G>T | ENSP00000434714.1:n.1011+1963G>T | |
| ENST00000525954.5:n.1310+1963G>T | ||
| ENST00000528643.5:c.777+1963G>T | ENSP00000431649.1:n.777+1963G>T | |
| ENST00000528812.5:c.840+1963G>T | ENSP00000431749.1:n.840+1963G>T | |
| ENST00000530664.5:c.840+1963G>T | ENSP00000432331.1:n.840+1963G>T | |
| ENST00000538689.4:c.840+1963G>T | ENSP00000444248.2:n.840+1963G>T | |
| ENST00000615631.4:c.1032+1963G>T | ENSP00000481481.1:n.1032+1963G>T | |
| ENST00000618539.4:c.1032+1963G>T | ENSP00000480828.1:n.1032+1963G>T | |
| ENST00000622850.2:c.840+1963G>T | ENSP00000484122.1:n.840+1963G>T | |
| ENST00000623368.3:c.840+1963G>T | ENSP00000485229.1:n.840+1963G>T | |
| NM_001287742.1:c.1032+1963G>T | NP_001274671.1:n.1032+1963G>T | |
| NM_001287743.1:c.1032+1963G>T | NP_001274672.1:n.1032+1963G>T | |
| NM_001287744.1:c.840+1963G>T | NP_001274673.1:n.840+1963G>T | |
| NM_001287745.1:c.840+1963G>T | NP_001274674.1:n.840+1963G>T | |
| NM_001287747.1:c.840+1963G>T | NP_001274676.1:n.840+1963G>T | |
| NM_001287748.1:c.840+1963G>T | NP_001274677.1:n.840+1963G>T | |
| NM_001287749.1:c.840+1963G>T | NP_001274678.1:n.840+1963G>T | |
| NM_001287750.1:c.1209+1963G>T | NP_001274679.1:n.1209+1963G>T | |
| NM_001287751.1:c.777+1963G>T | NP_001274680.1:n.777+1963G>T | |
| NM_001287756.1:c.531+1963G>T | NP_001274685.1:n.531+1963G>T | |
| NM_004462.4:c.1032+1963G>T | NP_004453.3:n.1032+1963G>T | |
| XM_006716247.1:c.855+1963G>T | XP_006716310.1:n.855+1963G>T | |
| NM_004462.5:c.1032+1963G>T MANE Select | NP_004453.3:n.1032+1963G>T | |
| NM_001287742.2:c.1032+1963G>T | NP_001274671.1:n.1032+1963G>T | |
| NM_001287743.2:c.1032+1963G>T | NP_001274672.1:n.1032+1963G>T | |
| NM_001287744.2:c.840+1963G>T | NP_001274673.1:n.840+1963G>T | |
| NM_001287745.2:c.840+1963G>T | NP_001274674.1:n.840+1963G>T | |
| NM_001287749.2:c.840+1963G>T | NP_001274678.1:n.840+1963G>T | |
| NM_001287750.2:c.1209+1963G>T | NP_001274679.1:n.1209+1963G>T | |
| NM_001287751.2:c.777+1963G>T | NP_001274680.1:n.777+1963G>T | |
| NM_001287756.2:c.531+1963G>T | NP_001274685.1:n.531+1963G>T |