Linked Data
ClinVar Variation Id:
2897071
ClinVar RCV Id:
RCV003760277
dbSNP Id:
rs2118863986
gnomAD v4:
9-130489314-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130489314T>C , CM000671.2:g.130489314T>C | GRCh38 |
| NC_000009.11:g.133364701T>C , CM000671.1:g.133364701T>C | GRCh37 |
| NC_000009.10:g.132354522T>C | NCBI36 |
| NG_011542.1:g.49608T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.839-19T>C MANE Select | ENSP00000253004.6:n.839-19T>C | |
| ENST00000352480.9:c.839-19T>C | ENSP00000253004.6:n.839-19T>C | |
| ENST00000372386.6:n.110-19T>C | ||
| ENST00000372393.7:c.839-19T>C | ENSP00000361469.2:n.839-19T>C | |
| ENST00000372394.5:c.839-19T>C | ENSP00000361471.1:n.839-19T>C | |
| ENST00000470849.4:n.564-19T>C | ||
| ENST00000492400.5:n.348-19T>C | ||
| ENST00000493984.6:n.616-19T>C | ||
| NM_000050.4:c.839-19T>C | NP_000041.2:n.839-19T>C | |
| NM_054012.3:c.839-19T>C | NP_446464.1:n.839-19T>C | |
| XM_005272200.2:c.839-19T>C | XP_005272257.1:n.839-19T>C | |
| XM_011518705.1:c.953-19T>C | XP_011517007.1:n.953-19T>C | |
| XM_005272200.3:c.839-19T>C | XP_005272257.1:n.839-19T>C | |
| XM_011518705.2:c.953-19T>C | XP_011517007.1:n.953-19T>C | |
| XM_017014729.1:c.935-19T>C | XP_016870218.1:n.935-19T>C | |
| NM_054012.4:c.839-19T>C MANE Select | NP_446464.1:n.839-19T>C |