Linked Data
dbSNP Id:
rs1305561371
gnomAD v2:
9-125135586-A-G
gnomAD v3:
9-122373307-A-G
gnomAD v4:
9-122373307-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.122373307A>G , CM000671.2:g.122373307A>G | GRCh38 |
| NC_000009.11:g.125135586A>G , CM000671.1:g.125135586A>G | GRCh37 |
| NC_000009.10:g.124175407A>G | NCBI36 |
| NG_032900.1:g.7358A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362012.7:c.94+2035A>G MANE Select | ENSP00000354612.2:n.94+2035A>G | |
| ENST00000426608.6:c.94+2035A>G | ENSP00000411606.2:n.94+2035A>G | |
| ENST00000540753.6:c.19+1473A>G | ENSP00000437709.1:n.19+1473A>G | |
| ENST00000619306.5:c.94+2035A>G | ENSP00000483540.2:n.94+2035A>G | |
| ENST00000643576.1:n.188+2035A>G | ||
| ENST00000643810.1:c.-234+2035A>G | ENSP00000494717.1:n.-234+2035A>G | |
| ENST00000645132.1:n.261+2035A>G | ||
| ENST00000647067.1:c.94+2035A>G | ENSP00000495728.1:n.94+2035A>G | |
| ENST00000223423.8:c.94+2035A>G | ENSP00000223423.4:n.94+2035A>G | |
| ENST00000362012.6:c.94+2035A>G | ENSP00000354612.2:n.94+2035A>G | |
| ENST00000426608.5:c.85+2035A>G | ENSP00000411606.1:n.85+2035A>G | |
| ENST00000540753.5:c.19+1473A>G | ENSP00000437709.1:n.19+1473A>G | |
| ENST00000614910.4:c.94+2035A>G | ENSP00000484800.1:n.94+2035A>G | |
| ENST00000619306.4:c.187+2035A>G | ENSP00000483540.1:n.187+2035A>G | |
| NM_000962.3:c.94+2035A>G | NP_000953.2:n.94+2035A>G | |
| NM_001271164.1:c.94+2035A>G | NP_001258093.1:n.94+2035A>G | |
| NM_001271166.1:c.-234+2035A>G | NP_001258095.1:n.-234+2035A>G | |
| NM_001271367.1:c.-205+2035A>G | NP_001258296.1:n.-205+2035A>G | |
| NM_001271368.1:c.19+1473A>G | NP_001258297.1:n.19+1473A>G | |
| NM_080591.2:c.94+2035A>G | NP_542158.1:n.94+2035A>G | |
| XM_005252105.2:c.19+1473A>G | XP_005252162.1:n.19+1473A>G | |
| XM_011518875.1:c.19+1473A>G | XP_011517177.1:n.19+1473A>G | |
| XM_011518876.1:c.-2371A>G | XP_011517178.1:n.-2371A>G | |
| XM_005252105.3:c.19+1473A>G | XP_005252162.1:n.19+1473A>G | |
| XM_011518875.2:c.19+1473A>G | XP_011517177.1:n.19+1473A>G | |
| XM_011518876.2:c.-2371A>G | XP_011517178.1:n.-2371A>G | |
| XM_024447614.1:c.-234+2035A>G | XP_024303382.1:n.-234+2035A>G | |
| XM_024447615.1:c.-234+2035A>G | XP_024303383.1:n.-234+2035A>G | |
| NM_000962.4:c.94+2035A>G MANE Select | NP_000953.2:n.94+2035A>G | |
| NM_001271164.2:c.94+2035A>G | NP_001258093.1:n.94+2035A>G | |
| NM_001271166.2:c.-234+2035A>G | NP_001258095.1:n.-234+2035A>G | |
| NM_001271367.2:c.-205+2035A>G | NP_001258296.1:n.-205+2035A>G | |
| NM_001271368.2:c.19+1473A>G | NP_001258297.1:n.19+1473A>G | |
| NM_080591.3:c.94+2035A>G | NP_542158.1:n.94+2035A>G |