Linked Data
ClinVar Variation Id:
336407
ClinVar RCV Id:
RCV000344773
dbSNP Id:
rs886056131
gnomAD v2:
2-47596566-C-T
gnomAD v3:
2-47369427-C-T
gnomAD v4:
2-47369427-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47369427C>T , CM000664.2:g.47369427C>T | GRCh38 |
| NC_000002.11:g.47596566C>T , CM000664.1:g.47596566C>T | GRCh37 |
| NC_000002.10:g.47450070C>T | NCBI36 |
| NG_012352.2:g.29265C>T , LRG_215:g.29265C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263735.9:c.-79C>T MANE Select | ENSP00000263735.4:n.-79C>T | |
| ENST00000263735.8:c.-79C>T | ENSP00000263735.4:n.-79C>T | |
| ENST00000405271.5:c.160+192C>T | ENSP00000385476.1:n.160+192C>T | |
| ENST00000456133.5:c.160+192C>T | ENSP00000410675.1:n.160+192C>T | |
| NM_002354.2:c.-79C>T , LRG_215t1:c.-79C>T | NP_002345.2:n.-79C>T | |
| NM_002354.3:c.-79C>T MANE Select | NP_002345.2:n.-79C>T |