Linked Data
ClinVar Variation Id:
470556
ClinVar RCV Id:
RCV000530615
dbSNP Id:
rs397516845
ExAC:
3:52485474 C / T
gnomAD v2:
3-52485474-C-T
gnomAD v3:
3-52451458-C-T
gnomAD v4:
3-52451458-C-T
COSMIC:
COSM4735026
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52451458C>T , CM000665.2:g.52451458C>T | GRCh38 |
| NC_000003.11:g.52485474C>T , CM000665.1:g.52485474C>T | GRCh37 |
| NC_000003.10:g.52460514C>T | NCBI36 |
| NG_008963.1:g.7584G>A , LRG_378:g.7584G>A | |
| NG_033112.1:g.951C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232975.8:c.387G>A MANE Select | ENSP00000232975.3:p.Thr129= | |
| ENST00000232975.7:c.387G>A | ENSP00000232975.3:p.Thr129= | |
| ENST00000461086.1:n.318G>A | ||
| ENST00000496590.1:c.255G>A | ENSP00000420596.1:p.Thr85= | |
| NM_003280.2:c.387G>A , LRG_378t1:c.387G>A | NP_003271.1:p.Thr129= | |
| NM_003280.3:c.387G>A MANE Select | NP_003271.1:p.Thr129= |