Linked Data
ClinVar Variation Id:
878218
ClinVar RCV Id:
RCV001104613
dbSNP Id:
rs1468425197
gnomAD v2:
11-128761320-C-G
gnomAD v3:
11-128891425-C-G
gnomAD v4:
11-128891425-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891425C>G , CM000673.2:g.128891425C>G | GRCh38 |
| NC_000011.9:g.128761320C>G , CM000673.1:g.128761320C>G | GRCh37 |
| NC_000011.8:g.128266530C>G | NCBI36 |
| NG_023406.2:g.5008C>G , LRG_333:g.5008C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-307C>G MANE Select | ENSP00000433295.1:n.-307C>G | |
| ENST00000529694.5:c.-307C>G | ENSP00000433295.1:n.-307C>G | |
| NM_000890.3:c.-307C>G , LRG_333t1:c.-307C>G | NP_000881.3:n.-307C>G | |
| NM_000890.4:c.-307C>G | NP_000881.3:n.-307C>G | |
| NM_001354169.1:c.-396C>G | NP_001341098.1:n.-396C>G | |
| NM_000890.5:c.-307C>G MANE Select | NP_000881.3:n.-307C>G | |
| NM_001354169.2:c.-396C>G | NP_001341098.1:n.-396C>G |