Linked Data
ClinVar Variation Id:
1597250
ClinVar RCV Id:
RCV002117664
dbSNP Id:
rs742035
gnomAD v2:
20-44520579-C-T
gnomAD v3:
20-45891940-C-T
gnomAD v4:
20-45891940-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45891940C>T , CM000682.2:g.45891940C>T | GRCh38 |
| NC_000020.10:g.44520579C>T , CM000682.1:g.44520579C>T | GRCh37 |
| NC_000020.9:g.43953986C>T | NCBI36 |
| NG_008291.1:g.5989C>T | |
| NG_033108.1:g.4348G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480961.3:n.636C>T | ||
| ENST00000484855.4:n.269C>T | ||
| ENST00000493522.8:n.247C>T | ||
| ENST00000606066.3:n.636C>T | ||
| ENST00000606782.3:n.95C>T | ||
| ENST00000607187.3:n.636C>T | ||
| ENST00000607212.3:n.430C>T | ||
| ENST00000607814.7:n.396C>T | ||
| ENST00000677755.2:n.320C>T | ||
| ENST00000678622.2:n.636C>T | ||
| ENST00000678691.2:n.636C>T | ||
| ENST00000678988.2:n.1258C>T | ||
| ENST00000679053.2:n.636C>T | ||
| ENST00000679343.2:n.636C>T | ||
| ENST00000684198.1:n.636C>T | ||
| ENST00000372459.7:c.219C>T | ENSP00000361537.2:p.Pro73= | |
| ENST00000372484.8:c.273C>T | ENSP00000361562.3:p.Pro91= | |
| ENST00000419493.3:c.219C>T | ENSP00000408533.3:p.Pro73= | |
| ENST00000480961.2:n.246C>T | ||
| ENST00000484855.3:n.269C>T | ||
| ENST00000493522.7:n.247C>T | ||
| ENST00000606066.2:n.284C>T | ||
| ENST00000606394.6:c.248+178C>T | ENSP00000475827.1:n.248+178C>T | |
| ENST00000606782.2:n.95C>T | ||
| ENST00000607187.2:n.150C>T | ||
| ENST00000607212.2:n.430C>T | ||
| ENST00000607482.6:c.219C>T | ENSP00000475524.2:p.Pro73= | |
| ENST00000607814.6:n.396C>T | ||
| ENST00000646241.3:c.219C>T MANE Select | ENSP00000493613.2:p.Pro73= | |
| ENST00000676526.1:c.273C>T | ENSP00000504209.1:p.Pro91= | |
| ENST00000676597.1:c.219C>T | ENSP00000503904.1:p.Pro73= | |
| ENST00000676657.1:c.219C>T | ENSP00000504158.1:p.Pro73= | |
| ENST00000676967.1:c.219C>T | ENSP00000502866.1:p.Pro73= | |
| ENST00000677394.1:c.273C>T | ENSP00000504790.1:p.Pro91= | |
| ENST00000677525.1:c.*42C>T | ENSP00000504197.1:n.*42C>T | |
| ENST00000677755.1:n.320C>T | ||
| ENST00000678025.1:c.219C>T | ENSP00000503463.1:p.Pro73= | |
| ENST00000678078.1:c.273C>T | ENSP00000502993.1:p.Pro91= | |
| ENST00000678217.1:c.219C>T | ENSP00000504109.1:p.Pro73= | |
| ENST00000678331.1:c.219C>T | ENSP00000504524.1:p.Pro73= | |
| ENST00000678443.1:c.219C>T | ENSP00000504006.1:p.Pro73= | |
| ENST00000678512.1:n.409C>T | ||
| ENST00000678622.1:n.264C>T | ||
| ENST00000678691.1:n.97C>T | ||
| ENST00000678939.1:c.219C>T | ENSP00000503404.1:p.Pro73= | |
| ENST00000678988.1:n.1258C>T | ||
| ENST00000679053.1:n.264C>T | ||
| ENST00000679343.1:n.257C>T | ||
| ENST00000191018.9:c.219C>T | ENSP00000191018.5:p.Pro73= | |
| ENST00000354880.9:c.273C>T | ENSP00000346952.4:p.Pro91= | |
| ENST00000372459.6:c.219C>T | ENSP00000361537.2:p.Pro73= | |
| ENST00000372484.7:c.273C>T | ENSP00000361562.3:p.Pro91= | |
| ENST00000606066.1:n.264C>T | ||
| ENST00000606394.5:c.248+178C>T | ENSP00000475827.1:n.248+178C>T | |
| ENST00000606788.5:c.273C>T | ENSP00000476235.1:p.Pro91= | |
| ENST00000607212.1:n.395C>T | ||
| ENST00000607482.5:c.219C>T | ENSP00000475524.1:p.Pro73= | |
| ENST00000607814.5:n.397C>T | ||
| ENST00000607841.5:n.264C>T | ||
| NM_000308.2:c.273C>T | NP_000299.2:p.Pro91= | |
| NM_000308.3:c.273C>T | NP_000299.2:p.Pro91= | |
| NM_001127695.1:c.219C>T | NP_001121167.1:p.Pro73= | |
| NM_001127695.2:c.219C>T | NP_001121167.1:p.Pro73= | |
| NM_001167594.1:c.273C>T | NP_001161066.1:p.Pro91= | |
| NM_001167594.2:c.273C>T | NP_001161066.1:p.Pro91= | |
| NR_133656.1:n.1455C>T | ||
| NM_000308.4:c.219C>T MANE Select | NP_000299.3:p.Pro73= | |
| NM_001127695.3:c.219C>T | NP_001121167.1:p.Pro73= | |
| NM_001167594.3:c.219C>T | NP_001161066.2:p.Pro73= | |
| NR_133656.2:n.264C>T |