Linked Data
dbSNP Id:
rs529933298
gnomAD v2:
17-4801792-T-C
gnomAD v3:
17-4898497-T-C
gnomAD v4:
17-4898497-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898497T>C , CM000679.2:g.4898497T>C | GRCh38 |
| NC_000017.10:g.4801792T>C , CM000679.1:g.4801792T>C | GRCh37 |
| NC_000017.9:g.4742571T>C | NCBI36 |
| NG_008029.2:g.9579A>G | |
| NG_028005.1:g.70158T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.*239A>G MANE Select | ENSP00000497829.1:n.*239A>G | |
| ENST00000649830.1:c.*357A>G | ENSP00000496907.1:n.*357A>G | |
| ENST00000652550.1:n.1447A>G | ||
| ENST00000293780.4:c.*239A>G | ENSP00000293780.4:n.*239A>G | |
| ENST00000572438.1:n.1407A>G | ||
| NM_000080.3:c.*239A>G | NP_000071.1:n.*239A>G | |
| NM_000080.4:c.*239A>G MANE Select | NP_000071.1:n.*239A>G | |
| XM_017024115.1:c.*239A>G | XP_016879604.1:n.*239A>G |