Linked Data
ClinVar Variation Id:
429500
dbSNP Id:
rs1131691416
gnomAD v2:
7-44184793-C-T
gnomAD v4:
7-44145194-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145194C>T , CM000669.2:g.44145194C>T | GRCh38 |
| NC_000007.13:g.44184793C>T , CM000669.1:g.44184793C>T | GRCh37 |
| NC_000007.12:g.44151318C>T | NCBI36 |
| NG_008847.1:g.49230G>A | |
| NG_008847.2:g.57977G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1338G>A | ENSP00000379142.4:n.*1338G>A | |
| ENST00000616242.5:c.*460G>A | ENSP00000482149.2:n.*460G>A | |
| ENST00000683378.1:n.566G>A | ||
| ENST00000336642.9:c.374G>A | ENSP00000338009.5:p.Arg125Gln | |
| ENST00000345378.7:c.1343G>A | ENSP00000223366.2:p.Arg448Gln | |
| ENST00000403799.8:c.1340G>A MANE Select | ENSP00000384247.3:p.Arg447Gln | |
| ENST00000671824.1:c.1403G>A | ENSP00000500264.1:p.Arg468Gln | |
| ENST00000672743.1:n.352G>A | ||
| ENST00000673284.1:c.1340G>A | ENSP00000499852.1:p.Arg447Gln | |
| ENST00000336642.8:c.392G>A | ENSP00000338009.4:p.Arg131Gln | |
| ENST00000345378.6:c.1343G>A | ENSP00000223366.2:p.Arg448Gln | |
| ENST00000395796.7:c.1337G>A | ENSP00000379142.3:p.Arg446Gln | |
| ENST00000403799.7:c.1340G>A | ENSP00000384247.3:p.Arg447Gln | |
| ENST00000437084.1:c.1289G>A | ENSP00000402840.1:p.Arg430Gln | |
| ENST00000459642.1:n.720G>A | ||
| ENST00000616242.4:c.1337G>A | ENSP00000482149.1:p.Arg446Gln | |
| NM_000162.3:c.1340G>A | NP_000153.1:p.Arg447Gln | |
| NM_033507.1:c.1343G>A | NP_277042.1:p.Arg448Gln | |
| NM_033508.1:c.1337G>A | NP_277043.1:p.Arg446Gln | |
| NM_000162.4:c.1340G>A | NP_000153.1:p.Arg447Gln | |
| NM_001354800.1:c.1340G>A | NP_001341729.1:p.Arg447Gln | |
| NM_001354801.1:c.329G>A | NP_001341730.1:p.Arg110Gln | |
| NM_001354802.1:c.200G>A | NP_001341731.1:p.Arg67Gln | |
| NM_001354803.1:c.374G>A | NP_001341732.1:p.Arg125Gln | |
| NM_033507.2:c.1343G>A | NP_277042.1:p.Arg448Gln | |
| NM_033508.2:c.1337G>A | NP_277043.1:p.Arg446Gln | |
| XM_024446707.1:c.200G>A | XP_024302475.1:p.Arg67Gln | |
| NM_000162.5:c.1340G>A MANE Select | NP_000153.1:p.Arg447Gln | |
| NM_033507.3:c.1343G>A | NP_277042.1:p.Arg448Gln | |
| NM_033508.3:c.1337G>A | NP_277043.1:p.Arg446Gln | |
| NM_001354803.2:c.374G>A | NP_001341732.1:p.Arg125Gln |