Linked Data
dbSNP Id:
rs1784519
gnomAD v2:
11-132526865-A-G
gnomAD v3:
11-132656970-A-G
gnomAD v4:
11-132656970-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.132656970A>G , CM000673.2:g.132656970A>G | GRCh38 |
| NC_000011.9:g.132526865A>G , CM000673.1:g.132526865A>G | GRCh37 |
| NC_000011.8:g.132032075A>G | NCBI36 |
| NG_012107.1:g.880539T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000541867.6:c.400+117T>C | ENSP00000445496.1:n.400+117T>C | |
| ENST00000524381.6:c.379+117T>C MANE Select | ENSP00000434750.1:n.379+117T>C | |
| ENST00000331898.11:c.400+117T>C | ENSP00000330862.7:n.400+117T>C | |
| ENST00000374778.4:c.277+117T>C | ENSP00000363910.4:n.277+117T>C | |
| ENST00000524381.5:c.379+117T>C | ENSP00000434750.1:n.379+117T>C | |
| ENST00000529038.5:n.372+117T>C | ||
| ENST00000541867.5:c.400+117T>C | ENSP00000445496.1:n.400+117T>C | |
| ENST00000612177.4:c.400+117T>C | ENSP00000482061.1:n.400+117T>C | |
| NM_001012393.1:c.379+117T>C | NP_001012393.1:n.379+117T>C | |
| NM_002545.3:c.400+117T>C | NP_002536.1:n.400+117T>C | |
| XM_005271574.2:c.400+117T>C | XP_005271631.1:n.400+117T>C | |
| XM_006718846.1:c.379+117T>C | XP_006718909.1:n.379+117T>C | |
| XM_011542856.1:c.277+117T>C | XP_011541158.1:n.277+117T>C | |
| NM_001012393.2:c.379+117T>C | NP_001012393.1:n.379+117T>C | |
| NM_001319103.1:c.400+117T>C | NP_001306032.1:n.400+117T>C | |
| NM_001319104.1:c.100+117T>C | NP_001306033.1:n.100+117T>C | |
| NM_001319105.1:c.277+117T>C | NP_001306034.1:n.277+117T>C | |
| NM_001319106.1:c.400+117T>C | NP_001306035.1:n.400+117T>C | |
| NM_002545.4:c.400+117T>C | NP_002536.1:n.400+117T>C | |
| XM_006718846.3:c.379+117T>C | XP_006718909.1:n.379+117T>C | |
| XM_011542856.3:c.277+117T>C | XP_011541158.1:n.277+117T>C | |
| NM_001012393.3:c.379+117T>C | NP_001012393.1:n.379+117T>C | |
| NM_001319104.2:c.100+117T>C | NP_001306033.1:n.100+117T>C | |
| NM_001012393.5:c.379+117T>C MANE Select | NP_001012393.1:n.379+117T>C | |
| NM_001319103.2:c.400+117T>C | NP_001306032.1:n.400+117T>C | |
| NM_001319104.4:c.100+117T>C | NP_001306033.1:n.100+117T>C | |
| NM_001319105.2:c.277+117T>C | NP_001306034.1:n.277+117T>C | |
| NM_001319106.2:c.400+117T>C | NP_001306035.1:n.400+117T>C | |
| NM_002545.5:c.400+117T>C | NP_002536.1:n.400+117T>C |