Linked Data
ClinVar Variation Id:
323476
dbSNP Id:
rs745898810
gnomAD v2:
17-42326150-T-C
gnomAD v3:
17-44248782-T-C
gnomAD v4:
17-44248782-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44248782T>C , CM000679.2:g.44248782T>C | GRCh38 |
| NC_000017.10:g.42326150T>C , CM000679.1:g.42326150T>C | GRCh37 |
| NC_000017.9:g.39681676T>C | NCBI36 |
| NG_007498.1:g.24353A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.*1676A>G MANE Select | ENSP00000262418.6:n.*1676A>G | |
| ENST00000262418.10:c.*1676A>G | ENSP00000262418.6:n.*1676A>G | |
| ENST00000399246.3:c.*1676A>G | ENSP00000382190.3:n.*1676A>G | |
| ENST00000631130.1:c.*312A>G | ENSP00000486787.1:n.*312A>G | |
| NM_000342.3:c.*1676A>G | NP_000333.1:n.*1676A>G | |
| XM_005257593.3:c.*1676A>G | XP_005257650.1:n.*1676A>G | |
| XM_011525129.1:c.*1676A>G | XP_011523431.1:n.*1676A>G | |
| NM_000342.4:c.*1676A>G MANE Select | NP_000333.1:n.*1676A>G |