Linked Data
dbSNP Id:
rs11880316
gnomAD v2:
19-31911129-C-A
gnomAD v3:
19-31420223-C-A
gnomAD v4:
19-31420223-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.31420223C>A , CM000681.2:g.31420223C>A | GRCh38 |
| NC_000019.9:g.31911129C>A , CM000681.1:g.31911129C>A | GRCh37 |
| NC_000019.8:g.36602969C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_001753896.1:n.2884C>A | ||
| XR_001753897.1:n.2880C>A | ||
| XR_001753898.1:n.2880C>A | ||
| XR_001753899.1:n.2604C>A | ||
| XR_001753900.1:n.2376C>A | ||
| XR_002958388.1:n.3006C>A |