Linked Data
dbSNP Id:
rs2262909
gnomAD v2:
19-22135270-A-C
gnomAD v3:
19-21952468-A-C
gnomAD v4:
19-21952468-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.21952468A>C , CM000681.2:g.21952468A>C | GRCh38 |
| NC_000019.9:g.22135270A>C , CM000681.1:g.22135270A>C | GRCh37 |
| NC_000019.8:g.21927110A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000599916.5:c.306-19231T>G | ENSP00000469254.1:n.306-19231T>G | |
| ENST00000601773.5:c.227-11044T>G | ENSP00000469887.1:n.227-11044T>G | |
| NM_001329971.1:c.306-11044T>G | NP_001316900.1:n.306-11044T>G | |
| NM_001329974.1:c.227-11044T>G | NP_001316903.1:n.227-11044T>G | |
| NM_001329971.2:c.306-11044T>G | NP_001316900.1:n.306-11044T>G | |
| NM_001329974.2:c.227-11044T>G | NP_001316903.1:n.227-11044T>G |