Linked Data
dbSNP Id:
rs1417002112
gnomAD v2:
1-221010022-T-C
gnomAD v3:
1-220836680-T-C
gnomAD v4:
1-220836680-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220836680T>C , CM000663.2:g.220836680T>C | GRCh38 |
| NC_000001.10:g.221010022T>C , CM000663.1:g.221010022T>C | GRCh37 |
| NC_000001.9:g.219076645T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651706.1:c.842+31406T>C | ENSP00000499157.1:n.842+31406T>C | |
| NR_046901.1:n.293-3488A>G |