Linked Data
ClinVar Variation Id:
849869
dbSNP Id:
rs139622356
gnomAD v2:
3-10184449-C-T
gnomAD v3:
3-10142765-C-T
gnomAD v4:
3-10142765-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142765C>T , CM000665.2:g.10142765C>T | GRCh38 |
| NC_000003.11:g.10184449C>T , CM000665.1:g.10184449C>T | GRCh37 |
| NC_000003.10:g.10159449C>T | NCBI36 |
| NG_008212.3:g.6131C>T , LRG_322:g.6131C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.343C>T | ENSP00000512434.1:p.Leu115Phe | |
| ENST00000696143.1:c.343C>T | ENSP00000512435.1:p.Leu115Phe | |
| ENST00000696153.1:c.340+578C>T | ENSP00000512444.1:n.340+578C>T | |
| ENST00000256474.3:c.340+578C>T MANE Select | ENSP00000256474.3:n.340+578C>T | |
| ENST00000256474.2:c.340+578C>T | ENSP00000256474.2:n.340+578C>T | |
| ENST00000345392.2:c.340+578C>T | ENSP00000344757.2:n.340+578C>T | |
| ENST00000477538.1:n.220C>T | ||
| NM_000551.3:c.340+578C>T , LRG_322t1:c.340+578C>T | NP_000542.1:n.340+578C>T | |
| NM_198156.2:c.340+578C>T | NP_937799.1:n.340+578C>T | |
| XM_011534078.1:c.343C>T | XP_011532380.1:p.Leu115Phe | |
| NM_001354723.1:c.343C>T | NP_001341652.1:p.Leu115Phe | |
| NM_000551.4:c.340+578C>T MANE Select | NP_000542.1:n.340+578C>T | |
| NM_001354723.2:c.343C>T | NP_001341652.1:p.Leu115Phe | |
| NM_198156.3:c.340+578C>T | NP_937799.1:n.340+578C>T |