Linked Data
dbSNP Id:
rs1045032964
gnomAD v2:
14-103566973-G-A
gnomAD v3:
14-103100636-G-A
gnomAD v4:
14-103100636-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.103100636G>A , CM000676.2:g.103100636G>A | GRCh38 |
| NC_000014.8:g.103566973G>A , CM000676.1:g.103566973G>A | GRCh37 |
| NC_000014.7:g.102636726G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687959.1:c.394+23G>A | ENSP00000508483.1:n.394+23G>A | |
| ENST00000688303.1:c.394+23G>A MANE Select | ENSP00000509130.1:n.394+23G>A | |
| ENST00000380069.7:c.394+23G>A | ENSP00000369409.3:n.394+23G>A | |
| ENST00000559116.1:c.286+23G>A | ENSP00000454163.1:n.286+23G>A | |
| NM_001077594.1:c.394+23G>A | NP_001071062.1:n.394+23G>A | |
| XM_011537323.1:c.568+23G>A | XP_011535625.1:n.568+23G>A | |
| XM_011537324.1:c.568+23G>A | XP_011535626.1:n.568+23G>A | |
| XM_011537325.1:c.394+23G>A | XP_011535627.1:n.394+23G>A | |
| XM_011537326.1:c.394+23G>A | XP_011535628.1:n.394+23G>A | |
| XM_011537327.1:c.394+23G>A | XP_011535629.1:n.394+23G>A | |
| XM_011537328.1:c.394+23G>A | XP_011535630.1:n.394+23G>A | |
| XM_011537329.1:c.394+23G>A | XP_011535631.1:n.394+23G>A | |
| XM_011537330.1:c.394+23G>A | XP_011535632.1:n.394+23G>A | |
| XM_011537331.1:c.394+23G>A | XP_011535633.1:n.394+23G>A | |
| XM_011537332.1:c.394+23G>A | XP_011535634.1:n.394+23G>A | |
| XM_011537333.1:c.505+23G>A | XP_011535635.1:n.505+23G>A | |
| XM_011537334.1:c.-882+23G>A | XP_011535636.1:n.-882+23G>A | |
| XR_943558.1:n.1123+23G>A | ||
| XM_011537323.3:c.568+23G>A | XP_011535625.1:n.568+23G>A | |
| XM_011537324.2:c.568+23G>A | XP_011535626.1:n.568+23G>A | |
| XM_011537325.2:c.394+23G>A | XP_011535627.1:n.394+23G>A | |
| XM_011537327.2:c.394+23G>A | XP_011535629.1:n.394+23G>A | |
| XM_011537328.2:c.394+23G>A | XP_011535630.1:n.394+23G>A | |
| XM_011537329.2:c.394+23G>A | XP_011535631.1:n.394+23G>A | |
| XM_011537330.2:c.394+23G>A | XP_011535632.1:n.394+23G>A | |
| XM_011537332.2:c.394+23G>A | XP_011535634.1:n.394+23G>A | |
| XM_011537333.2:c.505+23G>A | XP_011535635.1:n.505+23G>A | |
| XR_943558.2:n.1150+23G>A | ||
| NM_001077594.2:c.394+23G>A MANE Select | NP_001071062.1:n.394+23G>A | |
| NM_001394941.1:c.394+23G>A | NP_001381870.1:n.394+23G>A | |
| NM_001394942.1:c.394+23G>A | NP_001381871.1:n.394+23G>A |