Linked Data
dbSNP Id:
rs1243447782
gnomAD v2:
22-50961977-A-G
gnomAD v3:
22-50523548-A-G
gnomAD v4:
22-50523548-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50523548A>G , CM000684.2:g.50523548A>G | GRCh38 |
| NC_000022.10:g.50961977A>G , CM000684.1:g.50961977A>G | GRCh37 |
| NC_000022.9:g.49308843A>G | NCBI36 |
| NG_016235.1:g.7892T>C | |
| NG_021419.1:g.20333A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420993.7:c.*173A>G MANE Select | ENSP00000410088.2:n.*173A>G | |
| NM_001185011.1:c.*173A>G | NP_001171940.1:n.*173A>G | |
| NM_152299.3:c.*173A>G | NP_689512.2:n.*173A>G | |
| XR_001755232.1:n.2201A>G | ||
| NM_152299.4:c.*173A>G MANE Select | NP_689512.2:n.*173A>G | |
| NM_001185011.2:c.*173A>G | NP_001171940.1:n.*173A>G |