Linked Data
ClinVar Variation Id:
2143878
ClinVar RCV Id:
RCV003062823
dbSNP Id:
rs1829389659
gnomAD v3:
8-99642015-T-C
gnomAD v4:
8-99642015-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99642015T>C , CM000670.2:g.99642015T>C | GRCh38 |
| NC_000008.10:g.100654243T>C , CM000670.1:g.100654243T>C | GRCh37 |
| NC_000008.9:g.100723419T>C | NCBI36 |
| NG_007098.2:g.633750T>C , LRG_351:g.633750T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.5500T>C | ENSP00000507923.1:p.Phe1834Leu | |
| ENST00000682358.1:n.5570T>C | ||
| ENST00000683334.1:c.*1182T>C | ENSP00000507369.1:n.*1182T>C | |
| ENST00000357162.7:c.5425T>C MANE Select | ENSP00000349685.2:p.Phe1809Leu | |
| ENST00000358544.7:c.5500T>C MANE Plus Clinical | ENSP00000351346.2:p.Phe1834Leu | |
| ENST00000357162.6:c.5425T>C | ENSP00000349685.2:p.Phe1809Leu | |
| ENST00000358544.6:c.5500T>C | ENSP00000351346.2:p.Phe1834Leu | |
| NM_017890.4:c.5500T>C , LRG_351t1:c.5500T>C | NP_060360.3:p.Phe1834Leu | |
| NM_152564.4:c.5425T>C , LRG_351t2:c.5425T>C | NP_689777.3:p.Phe1809Leu | |
| XM_005250800.2:c.5500T>C | XP_005250857.1:p.Phe1834Leu | |
| XM_005250801.3:c.5500T>C | XP_005250858.1:p.Phe1834Leu | |
| XM_011516848.1:c.5497T>C | XP_011515150.1:p.Phe1833Leu | |
| XM_011516849.1:c.5422T>C | XP_011515151.1:p.Phe1808Leu | |
| XM_011516850.1:c.5122T>C | XP_011515152.1:p.Phe1708Leu | |
| XM_011516851.1:c.2386T>C | XP_011515153.1:p.Phe796Leu | |
| XM_011516852.1:c.2386T>C | XP_011515154.1:p.Phe796Leu | |
| XM_011516853.1:c.5500T>C | XP_011515155.1:p.Phe1834Leu | |
| XM_011516854.1:c.1279T>C | XP_011515156.1:p.Phe427Leu | |
| XM_005250800.3:c.5500T>C | XP_005250857.1:p.Phe1834Leu | |
| XM_005250801.5:c.5500T>C | XP_005250858.1:p.Phe1834Leu | |
| XM_011516848.2:c.5497T>C | XP_011515150.1:p.Phe1833Leu | |
| XM_011516849.2:c.5422T>C | XP_011515151.1:p.Phe1808Leu | |
| XM_011516850.2:c.5122T>C | XP_011515152.1:p.Phe1708Leu | |
| XM_011516851.2:c.2386T>C | XP_011515153.1:p.Phe796Leu | |
| XM_011516852.2:c.2386T>C | XP_011515154.1:p.Phe796Leu | |
| XM_011516853.2:c.5500T>C | XP_011515155.1:p.Phe1834Leu | |
| XM_011516854.2:c.1279T>C | XP_011515156.1:p.Phe427Leu | |
| XM_017013109.1:c.5305T>C | XP_016868598.1:p.Phe1769Leu | |
| XM_017013111.1:c.2386T>C | XP_016868600.1:p.Phe796Leu | |
| XM_017013112.1:c.1057T>C | XP_016868601.1:p.Phe353Leu | |
| XM_024447074.1:c.4285T>C | XP_024302842.1:p.Phe1429Leu | |
| XR_001745482.2:n.5461T>C | ||
| NM_017890.5:c.5500T>C MANE Plus Clinical | NP_060360.3:p.Phe1834Leu | |
| NM_152564.5:c.5425T>C MANE Select | NP_689777.3:p.Phe1809Leu |