Linked Data
ClinVar Variation Id:
2879289
ClinVar RCV Id:
RCV003597769
dbSNP Id:
rs1355619352
gnomAD v3:
20-45891349-T-C
gnomAD v4:
20-45891349-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45891349T>C , CM000682.2:g.45891349T>C | GRCh38 |
| NC_000020.10:g.44519988T>C , CM000682.1:g.44519988T>C | GRCh37 |
| NC_000020.9:g.43953395T>C | NCBI36 |
| NG_008291.1:g.5398T>C | |
| NG_033108.1:g.4939A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480961.3:n.387T>C | ||
| ENST00000606066.3:n.387T>C | ||
| ENST00000607187.3:n.387T>C | ||
| ENST00000607212.3:n.28T>C | ||
| ENST00000678622.2:n.387T>C | ||
| ENST00000678691.2:n.387T>C | ||
| ENST00000678988.2:n.1009T>C | ||
| ENST00000679053.2:n.387T>C | ||
| ENST00000679343.2:n.387T>C | ||
| ENST00000684198.1:n.387T>C | ||
| ENST00000372484.8:c.24T>C | ENSP00000361562.3:p.Pro8= | |
| ENST00000606066.2:n.35T>C | ||
| ENST00000606394.6:c.24T>C | ENSP00000475827.1:p.Pro8= | |
| ENST00000607212.2:n.28T>C | ||
| ENST00000646241.3:c.-31T>C MANE Select | ENSP00000493613.2:n.-31T>C | |
| ENST00000676526.1:c.24T>C | ENSP00000504209.1:p.Pro8= | |
| ENST00000677394.1:c.24T>C | ENSP00000504790.1:p.Pro8= | |
| ENST00000677525.1:c.-52T>C | ENSP00000504197.1:n.-52T>C | |
| ENST00000678025.1:c.-31T>C | ENSP00000503463.1:n.-31T>C | |
| ENST00000678078.1:c.24T>C | ENSP00000502993.1:p.Pro8= | |
| ENST00000678512.1:n.7T>C | ||
| ENST00000678622.1:n.15T>C | ||
| ENST00000678939.1:c.-31T>C | ENSP00000503404.1:n.-31T>C | |
| ENST00000678988.1:n.1009T>C | ||
| ENST00000679053.1:n.15T>C | ||
| ENST00000679343.1:n.8T>C | ||
| ENST00000191018.9:c.-77T>C | ENSP00000191018.5:n.-77T>C | |
| ENST00000354880.9:c.24T>C | ENSP00000346952.4:p.Pro8= | |
| ENST00000372484.7:c.24T>C | ENSP00000361562.3:p.Pro8= | |
| ENST00000606066.1:n.15T>C | ||
| ENST00000606394.5:c.24T>C | ENSP00000475827.1:p.Pro8= | |
| ENST00000606788.5:c.24T>C | ENSP00000476235.1:p.Pro8= | |
| ENST00000607841.5:n.15T>C | ||
| NM_000308.2:c.24T>C | NP_000299.2:p.Pro8= | |
| NM_000308.3:c.24T>C | NP_000299.2:p.Pro8= | |
| NM_001127695.1:c.-77T>C | NP_001121167.1:n.-77T>C | |
| NM_001127695.2:c.-77T>C | NP_001121167.1:n.-77T>C | |
| NM_001167594.1:c.24T>C | NP_001161066.1:p.Pro8= | |
| NM_001167594.2:c.24T>C | NP_001161066.1:p.Pro8= | |
| NR_133656.1:n.1206T>C | ||
| NM_000308.4:c.-31T>C MANE Select | NP_000299.3:n.-31T>C | |
| NM_001127695.3:c.-77T>C | NP_001121167.1:n.-77T>C | |
| NM_001167594.3:c.-31T>C | NP_001161066.2:n.-31T>C | |
| NR_133656.2:n.15T>C |