Linked Data
ClinVar Variation Id:
377
ClinVar RCV Id:
RCV000000408
dbSNP Id:
rs137854541
gnomAD v3:
20-45891714-A-G
gnomAD v4:
20-45891714-A-G
PubMed:
PMID:8514852
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45891714A>G , CM000682.2:g.45891714A>G | GRCh38 |
| NC_000020.10:g.44520353A>G , CM000682.1:g.44520353A>G | GRCh37 |
| NC_000020.9:g.43953760A>G | NCBI36 |
| NG_008291.1:g.5763A>G | |
| NG_033108.1:g.4574T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000480961.3:n.563A>G | ||
| ENST00000484855.4:n.196A>G | ||
| ENST00000493522.8:n.174A>G | ||
| ENST00000606066.3:n.563A>G | ||
| ENST00000607187.3:n.563A>G | ||
| ENST00000607212.3:n.204A>G | ||
| ENST00000607814.7:n.170A>G | ||
| ENST00000677755.2:n.94A>G | ||
| ENST00000678622.2:n.563A>G | ||
| ENST00000678691.2:n.563A>G | ||
| ENST00000678988.2:n.1185A>G | ||
| ENST00000679053.2:n.563A>G | ||
| ENST00000679343.2:n.563A>G | ||
| ENST00000684198.1:n.563A>G | ||
| ENST00000372459.7:c.146A>G | ENSP00000361537.2:p.Gln49Arg | |
| ENST00000372484.8:c.200A>G | ENSP00000361562.3:p.Gln67Arg | |
| ENST00000419493.3:c.146A>G | ENSP00000408533.3:p.Gln49Arg | |
| ENST00000480961.2:n.173A>G | ||
| ENST00000484855.3:n.196A>G | ||
| ENST00000493522.7:n.174A>G | ||
| ENST00000606066.2:n.211A>G | ||
| ENST00000606394.6:c.200A>G | ENSP00000475827.1:p.Gln67Arg | |
| ENST00000607187.2:n.77A>G | ||
| ENST00000607212.2:n.204A>G | ||
| ENST00000607482.6:c.146A>G | ENSP00000475524.2:p.Gln49Arg | |
| ENST00000607814.6:n.170A>G | ||
| ENST00000646241.3:c.146A>G MANE Select | ENSP00000493613.2:p.Gln49Arg | |
| ENST00000676526.1:c.200A>G | ENSP00000504209.1:p.Gln67Arg | |
| ENST00000676597.1:c.146A>G | ENSP00000503904.1:p.Gln49Arg | |
| ENST00000676657.1:c.146A>G | ENSP00000504158.1:p.Gln49Arg | |
| ENST00000676967.1:c.146A>G | ENSP00000502866.1:p.Gln49Arg | |
| ENST00000677394.1:c.200A>G | ENSP00000504790.1:p.Gln67Arg | |
| ENST00000677525.1:c.146A>G | ENSP00000504197.1:p.Gln49Arg | |
| ENST00000677755.1:n.94A>G | ||
| ENST00000678025.1:c.146A>G | ENSP00000503463.1:p.Gln49Arg | |
| ENST00000678078.1:c.200A>G | ENSP00000502993.1:p.Gln67Arg | |
| ENST00000678217.1:c.146A>G | ENSP00000504109.1:p.Gln49Arg | |
| ENST00000678331.1:c.146A>G | ENSP00000504524.1:p.Gln49Arg | |
| ENST00000678443.1:c.146A>G | ENSP00000504006.1:p.Gln49Arg | |
| ENST00000678512.1:n.183A>G | ||
| ENST00000678622.1:n.191A>G | ||
| ENST00000678691.1:n.24A>G | ||
| ENST00000678939.1:c.146A>G | ENSP00000503404.1:p.Gln49Arg | |
| ENST00000678988.1:n.1185A>G | ||
| ENST00000679053.1:n.191A>G | ||
| ENST00000679343.1:n.184A>G | ||
| ENST00000191018.9:c.146A>G | ENSP00000191018.5:p.Gln49Arg | |
| ENST00000354880.9:c.200A>G | ENSP00000346952.4:p.Gln67Arg | |
| ENST00000372459.6:c.146A>G | ENSP00000361537.2:p.Gln49Arg | |
| ENST00000372484.7:c.200A>G | ENSP00000361562.3:p.Gln67Arg | |
| ENST00000606066.1:n.191A>G | ||
| ENST00000606394.5:c.200A>G | ENSP00000475827.1:p.Gln67Arg | |
| ENST00000606788.5:c.200A>G | ENSP00000476235.1:p.Gln67Arg | |
| ENST00000607212.1:n.169A>G | ||
| ENST00000607482.5:c.146A>G | ENSP00000475524.1:p.Gln49Arg | |
| ENST00000607814.5:n.171A>G | ||
| ENST00000607841.5:n.191A>G | ||
| NM_000308.2:c.200A>G | NP_000299.2:p.Gln67Arg | |
| NM_000308.3:c.200A>G | NP_000299.2:p.Gln67Arg | |
| NM_001127695.1:c.146A>G | NP_001121167.1:p.Gln49Arg | |
| NM_001127695.2:c.146A>G | NP_001121167.1:p.Gln49Arg | |
| NM_001167594.1:c.200A>G | NP_001161066.1:p.Gln67Arg | |
| NM_001167594.2:c.200A>G | NP_001161066.1:p.Gln67Arg | |
| NR_133656.1:n.1382A>G | ||
| NM_000308.4:c.146A>G MANE Select | NP_000299.3:p.Gln49Arg | |
| NM_001127695.3:c.146A>G | NP_001121167.1:p.Gln49Arg | |
| NM_001167594.3:c.146A>G | NP_001161066.2:p.Gln49Arg | |
| NR_133656.2:n.191A>G |