Linked Data
dbSNP Id:
rs1273365345
gnomAD v2:
1-94512428-A-C
gnomAD v3:
1-94046872-A-C
gnomAD v4:
1-94046872-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94046872A>C , CM000663.2:g.94046872A>C | GRCh38 |
| NC_000001.10:g.94512428A>C , CM000663.1:g.94512428A>C | GRCh37 |
| NC_000001.9:g.94285016A>C | NCBI36 |
| NG_009073.1:g.79278T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.2918+47T>G MANE Select | ENSP00000359245.3:n.2918+47T>G | |
| ENST00000649773.1:c.2696+47T>G | ENSP00000496882.1:n.2696+47T>G | |
| ENST00000370225.3:c.2918+47T>G | ENSP00000359245.3:n.2918+47T>G | |
| ENST00000536513.5:c.-64-6783T>G | ENSP00000439707.2:n.-64-6783T>G | |
| NM_000350.2:c.2918+47T>G | NP_000341.2:n.2918+47T>G | |
| NM_000350.3:c.2918+47T>G MANE Select | NP_000341.2:n.2918+47T>G |