Linked Data
dbSNP Id:
rs7753873
gnomAD v2:
6-138173422-A-C
gnomAD v3:
6-137852285-A-C
gnomAD v4:
6-137852285-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.137852285A>C , CM000668.2:g.137852285A>C | GRCh38 |
| NC_000006.11:g.138173422A>C , CM000668.1:g.138173422A>C | GRCh37 |
| NC_000006.10:g.138215115A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_049793.1:n.1056+12874T>G | ||
| XR_943060.1:n.282-1214A>C | ||
| XR_001744379.1:n.6938T>G | ||
| XR_002956370.1:n.8736T>G |