Linked Data
dbSNP Id:
rs10894604
gnomAD v2:
11-132641746-T-G
gnomAD v3:
11-132771851-T-G
gnomAD v4:
11-132771851-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.132771851T>G , CM000673.2:g.132771851T>G | GRCh38 |
| NC_000011.9:g.132641746T>G , CM000673.1:g.132641746T>G | GRCh37 |
| NC_000011.8:g.132146956T>G | NCBI36 |
| NG_012107.1:g.765658A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000541867.6:c.168-114532A>C | ENSP00000445496.1:n.168-114532A>C | |
| ENST00000524381.6:c.147-114532A>C MANE Select | ENSP00000434750.1:n.147-114532A>C | |
| ENST00000331898.11:c.168-114532A>C | ENSP00000330862.7:n.168-114532A>C | |
| ENST00000374778.4:c.45-114532A>C | ENSP00000363910.4:n.45-114532A>C | |
| ENST00000524381.5:c.147-114532A>C | ENSP00000434750.1:n.147-114532A>C | |
| ENST00000525412.1:n.86-114532A>C | ||
| ENST00000529038.5:n.140-114532A>C | ||
| ENST00000541867.5:c.167+38942A>C | ENSP00000445496.1:n.167+38942A>C | |
| ENST00000612177.4:c.167+38942A>C | ENSP00000482061.1:n.167+38942A>C | |
| NM_001012393.1:c.147-114532A>C | NP_001012393.1:n.147-114532A>C | |
| NM_002545.3:c.168-114532A>C | NP_002536.1:n.168-114532A>C | |
| XM_005271574.2:c.168-114532A>C | XP_005271631.1:n.168-114532A>C | |
| XM_006718846.1:c.147-114532A>C | XP_006718909.1:n.147-114532A>C | |
| XM_011542856.1:c.45-114532A>C | XP_011541158.1:n.45-114532A>C | |
| NM_001012393.2:c.147-114532A>C | NP_001012393.1:n.147-114532A>C | |
| NM_001319103.1:c.168-114532A>C | NP_001306032.1:n.168-114532A>C | |
| NM_001319104.1:c.-133-114532A>C | NP_001306033.1:n.-133-114532A>C | |
| NM_001319105.1:c.45-114532A>C | NP_001306034.1:n.45-114532A>C | |
| NM_001319106.1:c.168-114532A>C | NP_001306035.1:n.168-114532A>C | |
| NM_002545.4:c.168-114532A>C | NP_002536.1:n.168-114532A>C | |
| XM_006718846.3:c.147-114532A>C | XP_006718909.1:n.147-114532A>C | |
| XM_011542856.3:c.45-114532A>C | XP_011541158.1:n.45-114532A>C | |
| NM_001012393.3:c.147-114532A>C | NP_001012393.1:n.147-114532A>C | |
| NM_001319104.2:c.-133-114532A>C | NP_001306033.1:n.-133-114532A>C | |
| NM_001012393.5:c.147-114532A>C MANE Select | NP_001012393.1:n.147-114532A>C | |
| NM_001319103.2:c.168-114532A>C | NP_001306032.1:n.168-114532A>C | |
| NM_001319104.4:c.-133-114532A>C | NP_001306033.1:n.-133-114532A>C | |
| NM_001319105.2:c.45-114532A>C | NP_001306034.1:n.45-114532A>C | |
| NM_001319106.2:c.168-114532A>C | NP_001306035.1:n.168-114532A>C | |
| NM_002545.5:c.168-114532A>C | NP_002536.1:n.168-114532A>C |