Linked Data
ClinVar Variation Id:
899714
ClinVar RCV Id:
RCV001144448
dbSNP Id:
rs756961672
ExAC:
3:33155945 C / T
gnomAD v2:
3-33155945-C-T
gnomAD v3:
3-33114453-C-T
gnomAD v4:
3-33114453-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33114453C>T , CM000665.2:g.33114453C>T | GRCh38 |
| NC_000003.11:g.33155945C>T , CM000665.1:g.33155945C>T | GRCh37 |
| NC_000003.10:g.33130949C>T | NCBI36 |
| NG_008122.1:g.5496C>T , LRG_4:g.5496C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320954.11:c.376C>T MANE Select | ENSP00000323696.5:p.Leu126= | |
| ENST00000320954.10:c.376C>T | ENSP00000323696.5:p.Leu126= | |
| ENST00000449224.1:c.376C>T | ENSP00000409997.1:p.Leu126= | |
| NM_006371.4:c.376C>T , LRG_4t1:c.376C>T | NP_006362.1:p.Leu126= | |
| NM_006371.5:c.376C>T MANE Select | NP_006362.1:p.Leu126= | |
| NM_001393363.1:c.376C>T | NP_001380292.1:p.Leu126= | |
| NM_001393364.1:c.376C>T | NP_001380293.1:p.Leu126= | |
| NM_001393365.1:c.376C>T | NP_001380294.1:p.Leu126= |