Linked Data
dbSNP Id:
rs782069940
gnomAD v2:
22-19164250-G-C
gnomAD v3:
22-19176737-G-C
gnomAD v4:
22-19176737-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19176737G>C , CM000684.2:g.19176737G>C | GRCh38 |
| NC_000022.10:g.19164250G>C , CM000684.1:g.19164250G>C | GRCh37 |
| NC_000022.9:g.17544250G>C | NCBI36 |
| NG_033863.1:g.7127C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215882.10:c.632-44C>G MANE Select | ENSP00000215882.5:n.632-44C>G | |
| ENST00000215882.9:c.632-44C>G | ENSP00000215882.5:n.632-44C>G | |
| ENST00000451283.5:c.323-44C>G | ENSP00000401480.1:n.323-44C>G | |
| ENST00000461267.1:n.778-44C>G | ||
| ENST00000470922.5:n.774-44C>G | ||
| NM_001256534.1:c.653-44C>G | NP_001243463.1:n.653-44C>G | |
| NM_001287387.1:c.323-44C>G | NP_001274316.1:n.323-44C>G | |
| NM_005984.4:c.632-44C>G | NP_005975.1:n.632-44C>G | |
| NR_046298.2:n.683-44C>G | ||
| NM_005984.5:c.632-44C>G MANE Select | NP_005975.1:n.632-44C>G | |
| NM_001256534.2:c.653-44C>G | NP_001243463.1:n.653-44C>G | |
| NM_001287387.2:c.323-44C>G | NP_001274316.1:n.323-44C>G | |
| NR_046298.3:n.556-44C>G |