Linked Data
ClinVar Variation Id:
336402
ClinVar RCV Id:
RCV000374294
dbSNP Id:
rs376344699
gnomAD v3:
2-47369314-G-T
gnomAD v4:
2-47369314-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47369314G>T , CM000664.2:g.47369314G>T | GRCh38 |
| NC_000002.11:g.47596453G>T , CM000664.1:g.47596453G>T | GRCh37 |
| NC_000002.10:g.47449957G>T | NCBI36 |
| NG_012352.2:g.29152G>T , LRG_215:g.29152G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263735.9:c.-192G>T MANE Select | ENSP00000263735.4:n.-192G>T | |
| ENST00000263735.8:c.-192G>T | ENSP00000263735.4:n.-192G>T | |
| ENST00000405271.5:c.160+79G>T | ENSP00000385476.1:n.160+79G>T | |
| ENST00000456133.5:c.160+79G>T | ENSP00000410675.1:n.160+79G>T | |
| NM_002354.2:c.-192G>T , LRG_215t1:c.-192G>T | NP_002345.2:n.-192G>T | |
| NM_002354.3:c.-192G>T MANE Select | NP_002345.2:n.-192G>T |