Linked Data
dbSNP Id:
rs10994359
gnomAD v2:
10-62222107-T-C
gnomAD v3:
10-60462349-T-C
gnomAD v4:
10-60462349-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.60462349T>C , CM000672.2:g.60462349T>C | GRCh38 |
| NC_000010.10:g.62222107T>C , CM000672.1:g.62222107T>C | GRCh37 |
| NC_000010.9:g.61892113T>C | NCBI36 |
| NG_029917.1:g.276178A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000503366.6:c.63+110116A>G | ENSP00000425236.1:n.63+110116A>G | |
| ENST00000373827.6:c.96+152837A>G | ENSP00000362933.2:n.96+152837A>G | |
| ENST00000503366.5:c.63+110116A>G | ENSP00000425236.1:n.63+110116A>G | |
| ENST00000622427.4:c.63+110116A>G | ENSP00000483244.1:n.63+110116A>G | |
| NM_001204403.1:c.96+152837A>G | NP_001191332.1:n.96+152837A>G | |
| NM_001204404.1:c.63+110116A>G | NP_001191333.1:n.63+110116A>G | |
| XM_011539700.1:c.102+152837A>G | XP_011538002.1:n.102+152837A>G | |
| XM_011539701.1:c.96+152837A>G | XP_011538003.1:n.96+152837A>G | |
| XM_011539702.1:c.58-182710A>G | XP_011538004.1:n.58-182710A>G | |
| XM_011539704.1:c.15+35635A>G | XP_011538006.1:n.15+35635A>G | |
| XM_017016114.1:c.63+110116A>G | XP_016871603.1:n.63+110116A>G | |
| XM_024447958.1:c.63+110116A>G | XP_024303726.1:n.63+110116A>G | |
| NM_001204403.2:c.96+152837A>G | NP_001191332.1:n.96+152837A>G | |
| NM_001204404.2:c.63+110116A>G | NP_001191333.1:n.63+110116A>G |