Linked Data
dbSNP Id:
rs255102
gnomAD v2:
7-30731164-A-T
gnomAD v3:
7-30691548-A-T
gnomAD v4:
7-30691548-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30691548A>T , CM000669.2:g.30691548A>T | GRCh38 |
| NC_000007.13:g.30731164A>T , CM000669.1:g.30731164A>T | GRCh37 |
| NC_000007.12:g.30697689A>T | NCBI36 |
| NG_029169.1:g.13556T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341843.8:c.-260-2264T>A | ENSP00000344304.4:n.-260-2264T>A | |
| ENST00000348438.8:c.91-2264T>A | ENSP00000340943.4:n.91-2264T>A | |
| ENST00000423776.1:c.91-2264T>A | ENSP00000416620.1:n.91-2264T>A | |
| ENST00000445981.5:c.91-2264T>A | ENSP00000401241.1:n.91-2264T>A | |
| ENST00000452278.5:c.91-2264T>A | ENSP00000401930.1:n.91-2264T>A | |
| ENST00000462882.1:n.187-2264T>A | ||
| NM_001202475.1:c.91-2264T>A | NP_001189404.1:n.91-2264T>A | |
| NM_001202481.1:c.-260-2264T>A | NP_001189410.1:n.-260-2264T>A |