Linked Data
dbSNP Id:
rs13293512
gnomAD v2:
9-96929743-T-C
gnomAD v3:
9-94167461-T-C
gnomAD v4:
9-94167461-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.94167461T>C , CM000671.2:g.94167461T>C | GRCh38 |
| NC_000009.11:g.96929743T>C , CM000671.1:g.96929743T>C | GRCh37 |
| NC_000009.10:g.95969564T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_170274.1:n.124+1080T>C | ||
| NR_170275.1:n.124+1080T>C | ||
| NR_170276.1:n.124+1080T>C | ||
| NR_170277.1:n.124+1080T>C | ||
| NR_170278.1:n.124+1080T>C |