Linked Data
dbSNP Id:
rs11239550
gnomAD v2:
10-46024729-A-G
gnomAD v3:
10-45529281-A-G
gnomAD v4:
10-45529281-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.45529281A>G , CM000672.2:g.45529281A>G | GRCh38 |
| NC_000010.10:g.46024729A>G , CM000672.1:g.46024729A>G | GRCh37 |
| NC_000010.9:g.45344735A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453424.7:c.102+3829T>C MANE Select | ENSP00000411848.2:n.102+3829T>C | |
| ENST00000319836.7:c.102+3829T>C | ENSP00000317087.3:n.102+3829T>C | |
| ENST00000395769.6:c.102+3829T>C | ENSP00000379116.2:n.102+3829T>C | |
| ENST00000453424.6:c.102+3829T>C | ENSP00000411848.2:n.102+3829T>C | |
| ENST00000453980.3:c.102+3829T>C | ENSP00000396678.1:n.102+3829T>C | |
| ENST00000602712.2:n.523+3829T>C | ||
| NM_001002266.2:c.102+3829T>C | NP_001002266.1:n.102+3829T>C | |
| NM_001282866.1:c.102+3829T>C | NP_001269795.1:n.102+3829T>C | |
| NM_145021.5:c.102+3829T>C | NP_659458.2:n.102+3829T>C | |
| XM_005271804.1:c.102+3829T>C | XP_005271861.1:n.102+3829T>C | |
| XM_006717704.2:c.102+3829T>C | XP_006717767.1:n.102+3829T>C | |
| XM_006717705.1:c.102+3829T>C | XP_006717768.1:n.102+3829T>C | |
| XM_011539492.1:c.102+3829T>C | XP_011537794.1:n.102+3829T>C | |
| XM_011539493.1:c.102+3829T>C | XP_011537795.1:n.102+3829T>C | |
| XM_011539494.1:c.102+3829T>C | XP_011537796.1:n.102+3829T>C | |
| XM_011539495.1:c.102+3829T>C | XP_011537797.1:n.102+3829T>C | |
| XR_246519.1:n.789+3829T>C | ||
| XM_005271804.3:c.102+3829T>C | XP_005271861.1:n.102+3829T>C | |
| XM_011539492.3:c.102+3829T>C | XP_011537794.1:n.102+3829T>C | |
| XR_246519.3:n.848+3829T>C | ||
| NM_001282866.2:c.102+3829T>C MANE Select | NP_001269795.1:n.102+3829T>C | |
| NM_001002266.3:c.102+3829T>C | NP_001002266.1:n.102+3829T>C | |
| NM_145021.6:c.102+3829T>C | NP_659458.2:n.102+3829T>C | |
| NM_001401645.1:c.102+3829T>C | NP_001388574.1:n.102+3829T>C | |
| NM_001401646.1:c.102+3829T>C | NP_001388575.1:n.102+3829T>C |