Linked Data
dbSNP Id:
rs11256676
gnomAD v2:
10-10601860-A-G
gnomAD v3:
10-10559897-A-G
gnomAD v4:
10-10559897-A-G
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.10559897A>G , CM000672.2:g.10559897A>G | GRCh38 |
| NC_000010.10:g.10601860A>G , CM000672.1:g.10601860A>G | GRCh37 |
| NC_000010.9:g.10641866A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_001326317.1:c.-95+97311A>G | NP_001313246.1:n.-95+97311A>G | |
| NM_001326318.1:c.-95+97311A>G | NP_001313247.1:n.-95+97311A>G | |
| NM_001326319.1:c.-133+97311A>G | NP_001313248.1:n.-133+97311A>G | |
| NM_001326320.1:c.-189+97311A>G | NP_001313249.1:n.-189+97311A>G | |
| NM_001326321.1:c.-95+97311A>G | NP_001313250.1:n.-95+97311A>G | |
| NM_001326323.1:c.-189+97311A>G | NP_001313252.1:n.-189+97311A>G | |
| XM_017015557.1:c.-273+97311A>G | XP_016871046.1:n.-273+97311A>G | |
| XM_017015568.2:c.-627+97311A>G | XP_016871057.1:n.-627+97311A>G | |
| NM_001326317.2:c.-95+97311A>G | NP_001313246.1:n.-95+97311A>G | |
| NM_001326318.2:c.-95+97311A>G | NP_001313247.1:n.-95+97311A>G | |
| NM_001326319.2:c.-133+97311A>G | NP_001313248.1:n.-133+97311A>G | |
| NM_001326320.2:c.-189+97311A>G | NP_001313249.1:n.-189+97311A>G | |
| NM_001326321.2:c.-95+97311A>G | NP_001313250.1:n.-95+97311A>G | |
| NM_001326323.2:c.-189+97311A>G | NP_001313252.1:n.-189+97311A>G |