Linked Data
dbSNP Id:
rs1374613551
gnomAD v2:
12-14115419-C-A
gnomAD v3:
12-13962485-C-A
gnomAD v4:
12-13962485-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13962485C>A , CM000674.2:g.13962485C>A | GRCh38 |
| NC_000012.11:g.14115419C>A , CM000674.1:g.14115419C>A | GRCh37 |
| NC_000012.10:g.14006686C>A | NCBI36 |
| NG_031854.1:g.22604G>T | |
| NG_031854.2:g.24528G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000609686.4:c.-19+17443G>T MANE Select | ENSP00000477455.1:n.-19+17443G>T | |
| ENST00000630791.2:c.-19+17443G>T | ENSP00000486677.2:n.-19+17443G>T | |
| ENST00000609686.3:c.-19+17443G>T | ENSP00000477455.1:n.-19+17443G>T | |
| ENST00000627535.2:c.-19+17443G>T | ENSP00000486411.1:n.-19+17443G>T | |
| ENST00000630791.1:c.-19+17443G>T | ENSP00000486677.1:n.-19+17443G>T | |
| NM_000834.3:c.-19+17443G>T | NP_000825.2:n.-19+17443G>T | |
| XM_011520628.1:c.-19+17443G>T | XP_011518930.1:n.-19+17443G>T | |
| XM_011520629.1:c.-19+17443G>T | XP_011518931.1:n.-19+17443G>T | |
| XM_011520630.1:c.-19+17443G>T | XP_011518932.1:n.-19+17443G>T | |
| NM_000834.4:c.-19+17443G>T | NP_000825.2:n.-19+17443G>T | |
| XM_011520628.2:c.-19+17443G>T | XP_011518930.1:n.-19+17443G>T | |
| XM_011520629.2:c.-19+17443G>T | XP_011518931.1:n.-19+17443G>T | |
| XM_017019219.2:c.-19+17443G>T | XP_016874708.1:n.-19+17443G>T | |
| NM_000834.5:c.-19+17443G>T MANE Select | NP_000825.2:n.-19+17443G>T |