Linked Data
ClinVar Variation Id:
427696
dbSNP Id:
rs1554619303
gnomAD v4:
8-86739737-C-A
PubMed:
PMID:28795510
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739737C>A , CM000670.2:g.86739737C>A | GRCh38 |
| NC_000008.10:g.87751965C>A , CM000670.1:g.87751965C>A | GRCh37 |
| NC_000008.9:g.87821081C>A | NCBI36 |
| NG_016980.1:g.8939G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.130-1G>T MANE Select | ENSP00000316605.5:n.130-1G>T | |
| ENST00000681746.1:c.130-1G>T | ENSP00000505959.1:n.130-1G>T | |
| ENST00000320005.5:c.130-1G>T | ENSP00000316605.5:n.130-1G>T | |
| ENST00000519777.1:n.112-1G>T | ||
| NM_019098.4:c.130-1G>T | NP_061971.3:n.130-1G>T | |
| NM_019098.5:c.130-1G>T MANE Select | NP_061971.3:n.130-1G>T |