Linked Data
ClinVar Variation Id:
346873
ClinVar RCV Id:
RCV000311808
dbSNP Id:
rs144135580
gnomAD v2:
3-93592719-C-T
gnomAD v3:
3-93873875-C-T
gnomAD v4:
3-93873875-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93873875C>T , CM000665.2:g.93873875C>T | GRCh38 |
| NC_000003.11:g.93592719C>T , CM000665.1:g.93592719C>T | GRCh37 |
| NC_000003.10:g.95075409C>T | NCBI36 |
| NG_009813.1:g.105216G>A , LRG_572:g.105216G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.*1+369G>A | ENSP00000330021.7:n.*1+369G>A | |
| ENST00000394236.9:c.*370G>A MANE Select | ENSP00000377783.3:n.*370G>A | |
| ENST00000407433.6:c.*370G>A | ENSP00000385794.2:n.*370G>A | |
| ENST00000647936.1:c.*504G>A | ENSP00000496822.1:n.*504G>A | |
| ENST00000648381.1:n.2569G>A | ||
| ENST00000648853.1:c.*370G>A | ENSP00000497262.1:n.*370G>A | |
| ENST00000650591.1:c.*370G>A | ENSP00000497376.1:n.*370G>A | |
| ENST00000394236.7:c.*370G>A | ENSP00000377783.3:n.*370G>A | |
| ENST00000407433.5:c.*370G>A | ENSP00000385794.1:n.*370G>A | |
| NM_000313.3:c.*370G>A , LRG_572t1:c.*370G>A | NP_000304.2:n.*370G>A | |
| NM_001314077.1:c.*370G>A , LRG_572t2:c.*370G>A | NP_001301006.1:n.*370G>A | |
| NM_000313.4:c.*370G>A MANE Select | NP_000304.2:n.*370G>A | |
| NM_001314077.2:c.*370G>A | NP_001301006.1:n.*370G>A |