Linked Data
ClinVar Variation Id:
2900430
ClinVar RCV Id:
RCV003760326
dbSNP Id:
rs1382763865
gnomAD v2:
9-133355852-C-T
gnomAD v3:
9-130480465-C-T
gnomAD v4:
9-130480465-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130480465C>T , CM000671.2:g.130480465C>T | GRCh38 |
| NC_000009.11:g.133355852C>T , CM000671.1:g.133355852C>T | GRCh37 |
| NC_000009.10:g.132345673C>T | NCBI36 |
| NG_011542.1:g.40759C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.838+16C>T MANE Select | ENSP00000253004.6:n.838+16C>T | |
| ENST00000352480.9:c.838+16C>T | ENSP00000253004.6:n.838+16C>T | |
| ENST00000372386.6:n.109+16C>T | ||
| ENST00000372393.7:c.838+16C>T | ENSP00000361469.2:n.838+16C>T | |
| ENST00000372394.5:c.838+16C>T | ENSP00000361471.1:n.838+16C>T | |
| ENST00000470849.4:n.563+16C>T | ||
| ENST00000492400.5:n.347+16C>T | ||
| ENST00000493984.6:n.615+16C>T | ||
| NM_000050.4:c.838+16C>T | NP_000041.2:n.838+16C>T | |
| NM_054012.3:c.838+16C>T | NP_446464.1:n.838+16C>T | |
| XM_005272200.2:c.838+16C>T | XP_005272257.1:n.838+16C>T | |
| XM_011518705.1:c.952+16C>T | XP_011517007.1:n.952+16C>T | |
| XM_005272200.3:c.838+16C>T | XP_005272257.1:n.838+16C>T | |
| XM_011518705.2:c.952+16C>T | XP_011517007.1:n.952+16C>T | |
| XM_017014729.1:c.934+16C>T | XP_016870218.1:n.934+16C>T | |
| NM_054012.4:c.838+16C>T MANE Select | NP_446464.1:n.838+16C>T |