Linked Data
dbSNP Id:
rs1454500726
gnomAD v2:
7-22856578-T-A
gnomAD v3:
7-22816959-T-A
gnomAD v4:
7-22816959-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.22816959T>A , CM000669.2:g.22816959T>A | GRCh38 |
| NC_000007.13:g.22856578T>A , CM000669.1:g.22856578T>A | GRCh37 |
| NC_000007.12:g.22823103T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358435.9:c.152+1041A>T MANE Select | ENSP00000351214.4:n.152+1041A>T | |
| ENST00000358435.8:c.152+1041A>T | ENSP00000351214.4:n.152+1041A>T | |
| ENST00000372879.8:c.289+453A>T | ENSP00000361970.4:n.289+453A>T | |
| ENST00000405021.7:c.140+1041A>T | ENSP00000385203.3:n.140+1041A>T | |
| ENST00000463284.2:n.174-3774A>T | ||
| ENST00000483581.1:n.336+1041A>T | ||
| NM_019059.3:c.152+1041A>T | NP_061932.1:n.152+1041A>T | |
| NM_019059.4:c.152+1041A>T | NP_061932.1:n.152+1041A>T | |
| NM_019059.5:c.152+1041A>T MANE Select | NP_061932.1:n.152+1041A>T | |
| NR_168014.1:n.178+1041A>T | ||
| NR_168015.1:n.130-3774A>T |