Linked Data
ClinVar Variation Id:
365678
dbSNP Id:
rs129882
gnomAD v2:
9-136523669-C-T
gnomAD v3:
9-133658547-C-T
gnomAD v4:
9-133658547-C-T
PubMed:
PMID:20498626
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133658547C>T , CM000671.2:g.133658547C>T | GRCh38 |
| NC_000009.11:g.136523669C>T , CM000671.1:g.136523669C>T | GRCh37 |
| NC_000009.10:g.135513490C>T | NCBI36 |
| NG_008645.1:g.27185C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393056.8:c.*100C>T MANE Select | ENSP00000376776.2:n.*100C>T | |
| ENST00000393056.6:c.*100C>T | ENSP00000376776.2:n.*100C>T | |
| NM_000787.3:c.*100C>T | NP_000778.3:n.*100C>T | |
| NM_000787.4:c.*100C>T MANE Select | NP_000778.3:n.*100C>T |