Linked Data
ClinVar Variation Id:
898718
ClinVar RCV Id:
RCV001142771
dbSNP Id:
rs1987042851
gnomAD v4:
20-45892854-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45892854A>C , CM000682.2:g.45892854A>C | GRCh38 |
| NC_000020.10:g.44521493A>C , CM000682.1:g.44521493A>C | GRCh37 |
| NC_000020.9:g.43954900A>C | NCBI36 |
| NG_008291.1:g.6903A>C | |
| NG_033108.1:g.3434T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480961.3:n.991A>C | ||
| ENST00000484855.4:n.624A>C | ||
| ENST00000493522.8:n.602A>C | ||
| ENST00000606066.3:n.1065A>C | ||
| ENST00000606782.3:n.695A>C | ||
| ENST00000607187.3:n.991A>C | ||
| ENST00000607212.3:n.785A>C | ||
| ENST00000607814.7:n.1310A>C | ||
| ENST00000677755.2:n.994A>C | ||
| ENST00000678622.2:n.991A>C | ||
| ENST00000678691.2:n.991A>C | ||
| ENST00000678988.2:n.1613A>C | ||
| ENST00000679053.2:n.991A>C | ||
| ENST00000679343.2:n.991A>C | ||
| ENST00000684198.1:n.991A>C | ||
| ENST00000372459.7:c.574A>C | ENSP00000361537.2:p.Met192Leu | |
| ENST00000372484.8:c.628A>C | ENSP00000361562.3:p.Met210Leu | |
| ENST00000419493.3:c.574A>C | ENSP00000408533.3:p.Met192Leu | |
| ENST00000480961.2:n.601A>C | ||
| ENST00000484855.3:n.624A>C | ||
| ENST00000493522.7:n.602A>C | ||
| ENST00000606066.2:n.713A>C | ||
| ENST00000606394.6:c.*216A>C | ENSP00000475827.1:n.*216A>C | |
| ENST00000606782.2:n.695A>C | ||
| ENST00000607187.2:n.505A>C | ||
| ENST00000607212.2:n.785A>C | ||
| ENST00000607482.6:c.574A>C | ENSP00000475524.2:p.Met192Leu | |
| ENST00000607814.6:n.1310A>C | ||
| ENST00000646241.3:c.574A>C MANE Select | ENSP00000493613.2:p.Met192Leu | |
| ENST00000676526.1:c.628A>C | ENSP00000504209.1:p.Met210Leu | |
| ENST00000676597.1:c.574A>C | ENSP00000503904.1:p.Met192Leu | |
| ENST00000676657.1:c.574A>C | ENSP00000504158.1:p.Met192Leu | |
| ENST00000676967.1:c.574A>C | ENSP00000502866.1:p.Met192Leu | |
| ENST00000677394.1:c.628A>C | ENSP00000504790.1:p.Met210Leu | |
| ENST00000677525.1:c.*397A>C | ENSP00000504197.1:n.*397A>C | |
| ENST00000677755.1:n.994A>C | ||
| ENST00000678025.1:c.574A>C | ENSP00000503463.1:p.Met192Leu | |
| ENST00000678078.1:c.628A>C | ENSP00000502993.1:p.Met210Leu | |
| ENST00000678217.1:c.574A>C | ENSP00000504109.1:p.Met192Leu | |
| ENST00000678331.1:c.574A>C | ENSP00000504524.1:p.Met192Leu | |
| ENST00000678443.1:c.574A>C | ENSP00000504006.1:p.Met192Leu | |
| ENST00000678512.1:n.838A>C | ||
| ENST00000678622.1:n.619A>C | ||
| ENST00000678691.1:n.452A>C | ||
| ENST00000678939.1:c.574A>C | ENSP00000503404.1:p.Met192Leu | |
| ENST00000678988.1:n.1613A>C | ||
| ENST00000679053.1:n.619A>C | ||
| ENST00000679343.1:n.612A>C | ||
| ENST00000191018.9:c.574A>C | ENSP00000191018.5:p.Met192Leu | |
| ENST00000354880.9:c.577A>C | ENSP00000346952.4:p.Met193Leu | |
| ENST00000372459.6:c.574A>C | ENSP00000361537.2:p.Met192Leu | |
| ENST00000372484.7:c.628A>C | ENSP00000361562.3:p.Met210Leu | |
| ENST00000419493.2:c.103A>C | ENSP00000408533.2:p.Met35Leu | |
| ENST00000485627.1:n.235A>C | ||
| ENST00000606394.5:c.*216A>C | ENSP00000475827.1:n.*216A>C | |
| ENST00000606782.1:n.207A>C | ||
| ENST00000606788.5:c.628A>C | ENSP00000476235.1:p.Met210Leu | |
| NM_000308.2:c.628A>C | NP_000299.2:p.Met210Leu | |
| NM_000308.3:c.628A>C | NP_000299.2:p.Met210Leu | |
| NM_001127695.1:c.574A>C | NP_001121167.1:p.Met192Leu | |
| NM_001127695.2:c.574A>C | NP_001121167.1:p.Met192Leu | |
| NM_001167594.1:c.577A>C | NP_001161066.1:p.Met193Leu | |
| NM_001167594.2:c.577A>C | NP_001161066.1:p.Met193Leu | |
| NR_133656.1:n.1810A>C | ||
| NM_000308.4:c.574A>C MANE Select | NP_000299.3:p.Met192Leu | |
| NM_001127695.3:c.574A>C | NP_001121167.1:p.Met192Leu | |
| NM_001167594.3:c.523A>C | NP_001161066.2:p.Met175Leu | |
| NR_133656.2:n.619A>C |