Linked Data
ClinVar Variation Id:
265958
dbSNP Id:
rs763389916
ExAC:
9:133355236 C / T
gnomAD v2:
9-133355236-C-T
gnomAD v3:
9-130479849-C-T
gnomAD v4:
9-130479849-C-T
PubMed:
PMID:20301631
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130479849C>T , CM000671.2:g.130479849C>T | GRCh38 |
| NC_000009.11:g.133355236C>T , CM000671.1:g.133355236C>T | GRCh37 |
| NC_000009.10:g.132345057C>T | NCBI36 |
| NG_011542.1:g.40143C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352480.10:c.773+49C>T MANE Select | ENSP00000253004.6:n.773+49C>T | |
| ENST00000352480.9:c.773+49C>T | ENSP00000253004.6:n.773+49C>T | |
| ENST00000372393.7:c.773+49C>T | ENSP00000361469.2:n.773+49C>T | |
| ENST00000372394.5:c.773+49C>T | ENSP00000361471.1:n.773+49C>T | |
| ENST00000467695.5:n.531C>T | ||
| ENST00000470849.4:n.498+49C>T | ||
| ENST00000492400.5:n.282+49C>T | ||
| ENST00000493984.6:n.550+49C>T | ||
| NM_000050.4:c.773+49C>T | NP_000041.2:n.773+49C>T | |
| NM_054012.3:c.773+49C>T | NP_446464.1:n.773+49C>T | |
| XM_005272200.2:c.773+49C>T | XP_005272257.1:n.773+49C>T | |
| XM_011518705.1:c.887+49C>T | XP_011517007.1:n.887+49C>T | |
| XM_005272200.3:c.773+49C>T | XP_005272257.1:n.773+49C>T | |
| XM_011518705.2:c.887+49C>T | XP_011517007.1:n.887+49C>T | |
| XM_017014729.1:c.869+49C>T | XP_016870218.1:n.869+49C>T | |
| NM_054012.4:c.773+49C>T MANE Select | NP_446464.1:n.773+49C>T |