Linked Data
ClinVar Variation Id:
324059
dbSNP Id:
rs149419718
gnomAD v2:
17-48261698-G-C
gnomAD v3:
17-50184337-G-C
gnomAD v4:
17-50184337-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50184337G>C , CM000679.2:g.50184337G>C | GRCh38 |
| NC_000017.10:g.48261698G>C , CM000679.1:g.48261698G>C | GRCh37 |
| NC_000017.9:g.45616697G>C | NCBI36 |
| NG_007400.1:g.22303C>G , LRG_1:g.22303C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.*1165C>G MANE Select | ENSP00000225964.6:n.*1165C>G | |
| ENST00000225964.9:c.*1165C>G | ENSP00000225964.5:n.*1165C>G | |
| NM_000088.3:c.*1165C>G , LRG_1t1:c.*1165C>G | NP_000079.2:n.*1165C>G | |
| XM_005257058.3:c.*1165C>G | XP_005257115.2:n.*1165C>G | |
| XM_005257059.3:c.*1165C>G | XP_005257116.2:n.*1165C>G | |
| XM_011524341.1:c.*1165C>G | XP_011522643.1:n.*1165C>G | |
| XM_005257058.4:c.*1165C>G | XP_005257115.2:n.*1165C>G | |
| XM_005257059.4:c.*1165C>G | XP_005257116.2:n.*1165C>G | |
| NM_000088.4:c.*1165C>G MANE Select | NP_000079.2:n.*1165C>G |