Linked Data
dbSNP Id:
rs913495679
gnomAD v2:
16-46732036-A-G
gnomAD v3:
16-46698124-A-G
gnomAD v4:
16-46698124-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.46698124A>G , CM000678.2:g.46698124A>G | GRCh38 |
| NC_000016.9:g.46732036A>G , CM000678.1:g.46732036A>G | GRCh37 |
| NC_000016.8:g.45289537A>G | NCBI36 |
| NG_028241.1:g.13479A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219097.7:c.*539A>G MANE Select | ENSP00000219097.2:n.*539A>G | |
| ENST00000219097.6:c.*539A>G | ENSP00000219097.2:n.*539A>G | |
| ENST00000566860.1:c.*539A>G | ENSP00000456981.1:n.*539A>G | |
| ENST00000567000.2:n.1302A>G | ||
| NM_014321.3:c.*539A>G | NP_055136.1:n.*539A>G | |
| NR_037620.1:n.1417A>G | ||
| NM_014321.4:c.*539A>G MANE Select | NP_055136.1:n.*539A>G | |
| NR_037620.2:n.1404A>G |