Linked Data
dbSNP Id:
rs2758346
gnomAD v2:
6-160115421-C-T
gnomAD v3:
6-159694389-C-T
gnomAD v4:
6-159694389-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.159694389C>T , CM000668.2:g.159694389C>T | GRCh38 |
| NC_000006.11:g.160115421C>T , CM000668.1:g.160115421C>T | GRCh37 |
| NC_000006.10:g.160035411C>T | NCBI36 |
| NG_008729.1:g.3933G>A | |
| NG_008729.3:g.73141G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000401980.3:c.-115-1526G>A | ENSP00000384196.3:n.-115-1526G>A | |
| ENST00000535561.5:c.93-1526G>A | ENSP00000445015.1:n.93-1526G>A | |
| ENST00000537657.5:c.-115-1526G>A | ENSP00000439191.1:n.-115-1526G>A | |
| ENST00000545162.5:c.93-1526G>A | ENSP00000441362.1:n.93-1526G>A | |
| ENST00000546087.5:c.-115-1526G>A | ENSP00000442920.1:n.-115-1526G>A | |
| NM_001322817.1:c.-115-1526G>A | NP_001309746.1:n.-115-1526G>A | |
| NM_001322819.1:c.-115-1526G>A | NP_001309748.1:n.-115-1526G>A | |
| NM_001322820.1:c.-115-1526G>A | NP_001309749.1:n.-115-1526G>A | |
| NM_001322817.2:c.-115-1526G>A | NP_001309746.1:n.-115-1526G>A | |
| NM_001322819.2:c.-115-1526G>A | NP_001309748.1:n.-115-1526G>A | |
| NM_001322820.2:c.-115-1526G>A | NP_001309749.1:n.-115-1526G>A |