Linked Data
dbSNP Id:
rs11197571
gnomAD v2:
10-117942634-A-G
gnomAD v3:
10-116183122-A-G
gnomAD v4:
10-116183122-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.116183122A>G , CM000672.2:g.116183122A>G | GRCh38 |
| NC_000010.10:g.117942634A>G , CM000672.1:g.117942634A>G | GRCh37 |
| NC_000010.9:g.117932624A>G | NCBI36 |
| NG_050620.1:g.95524T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369234.5:c.433+28509T>C | ENSP00000358237.4:n.433+28509T>C | |
| ENST00000439649.8:c.419-57565T>C | ENSP00000393725.3:n.419-57565T>C | |
| ENST00000682489.1:c.433+28509T>C | ENSP00000508164.1:n.433+28509T>C | |
| ENST00000682724.1:n.163-57565T>C | ||
| ENST00000682743.1:c.419-57565T>C | ENSP00000507970.1:n.419-57565T>C | |
| ENST00000684105.1:c.419-57565T>C | ENSP00000506818.1:n.419-57565T>C | |
| ENST00000355422.11:c.433+28509T>C MANE Select | ENSP00000347591.6:n.433+28509T>C | |
| ENST00000355422.10:c.433+28509T>C | ENSP00000347591.6:n.433+28509T>C | |
| ENST00000369234.4:c.433+28509T>C | ENSP00000358237.4:n.433+28509T>C | |
| ENST00000369236.5:c.419-57565T>C | ENSP00000358239.1:n.419-57565T>C | |
| ENST00000439649.7:c.419-57565T>C | ENSP00000393725.3:n.419-57565T>C | |
| NM_001145453.1:c.419-57565T>C | NP_001138925.1:n.419-57565T>C | |
| NM_005264.4:c.433+28509T>C | NP_005255.1:n.433+28509T>C | |
| NM_145793.3:c.419-57565T>C | NP_665736.1:n.419-57565T>C | |
| XM_005269696.1:c.433+28509T>C | XP_005269753.1:n.433+28509T>C | |
| XM_011539634.1:c.433+28509T>C | XP_011537936.1:n.433+28509T>C | |
| NM_001145453.2:c.419-57565T>C | NP_001138925.1:n.419-57565T>C | |
| NM_001348096.1:c.419-57565T>C | NP_001335025.1:n.419-57565T>C | |
| NM_001348098.1:c.433+28509T>C | NP_001335027.1:n.433+28509T>C | |
| NM_001348099.1:c.71-57565T>C | NP_001335028.1:n.71-57565T>C | |
| NM_005264.5:c.433+28509T>C | NP_005255.1:n.433+28509T>C | |
| NM_145793.4:c.419-57565T>C | NP_665736.1:n.419-57565T>C | |
| XM_011539634.2:c.433+28509T>C | XP_011537936.1:n.433+28509T>C | |
| NM_001348098.2:c.433+28509T>C | NP_001335027.1:n.433+28509T>C | |
| NM_005264.6:c.433+28509T>C | NP_005255.1:n.433+28509T>C | |
| NM_145793.5:c.419-57565T>C | NP_665736.1:n.419-57565T>C | |
| NM_001145453.4:c.419-57565T>C | NP_001138925.1:n.419-57565T>C | |
| NM_001348096.3:c.419-57565T>C | NP_001335025.1:n.419-57565T>C | |
| NM_001348098.4:c.433+28509T>C | NP_001335027.1:n.433+28509T>C | |
| NM_001348099.3:c.71-57565T>C | NP_001335028.1:n.71-57565T>C | |
| NM_001382556.2:c.419-57565T>C | NP_001369485.1:n.419-57565T>C | |
| NM_001382557.2:c.419-57565T>C | NP_001369486.1:n.419-57565T>C | |
| NM_001382558.2:c.419-57565T>C | NP_001369487.1:n.419-57565T>C | |
| NM_001382559.2:c.419-57565T>C | NP_001369488.1:n.419-57565T>C | |
| NM_001382560.2:c.419-57565T>C | NP_001369489.1:n.419-57565T>C | |
| NM_001382561.2:c.419-57565T>C | NP_001369490.1:n.419-57565T>C | |
| NM_005264.8:c.433+28509T>C MANE Select | NP_005255.1:n.433+28509T>C | |
| NM_145793.7:c.419-57565T>C | NP_665736.1:n.419-57565T>C |