Linked Data
ClinVar Variation Id:
1271805
ClinVar RCV Id:
RCV001684379
dbSNP Id:
rs9915710
gnomAD v2:
17-40690610-G-C
gnomAD v3:
17-42538592-G-C
gnomAD v4:
17-42538592-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42538592G>C , CM000679.2:g.42538592G>C | GRCh38 |
| NC_000017.10:g.40690610G>C , CM000679.1:g.40690610G>C | GRCh37 |
| NC_000017.9:g.37944136G>C | NCBI36 |
| NG_011552.1:g.7660G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.679-78G>C MANE Select | ENSP00000225927.1:n.679-78G>C | |
| ENST00000225927.6:c.679-78G>C | ENSP00000225927.1:n.679-78G>C | |
| ENST00000586516.5:c.281-78G>C | ||
| ENST00000591587.1:c.274-78G>C | ENSP00000467836.1:n.274-78G>C | |
| NM_000263.3:c.679-78G>C | NP_000254.2:n.679-78G>C | |
| XM_006721920.2:c.-64-78G>C | XP_006721983.1:n.-64-78G>C | |
| XM_011524840.1:c.-64-78G>C | XP_011523142.1:n.-64-78G>C | |
| XM_017024687.1:c.-64-78G>C | XP_016880176.1:n.-64-78G>C | |
| XM_024450771.1:c.736-78G>C | XP_024306539.1:n.736-78G>C | |
| XM_024450772.1:c.-64-78G>C | XP_024306540.1:n.-64-78G>C | |
| NM_000263.4:c.679-78G>C MANE Select | NP_000254.2:n.679-78G>C |