Linked Data
ClinVar Variation Id:
937749
ClinVar RCV Id:
RCV001206837
dbSNP Id:
rs775649577
gnomAD v2:
20-62076702-C-A
gnomAD v4:
20-63445349-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63445349C>A , CM000682.2:g.63445349C>A | GRCh38 |
| NC_000020.10:g.62076702C>A , CM000682.1:g.62076702C>A | GRCh37 |
| NC_000020.9:g.61547146C>A | NCBI36 |
| NG_009004.1:g.32292G>T | |
| NG_009004.2:g.32292G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.403G>T | ENSP00000516702.1:p.Val135Leu | |
| ENST00000344425.8:c.403G>T | ENSP00000345523.5:p.Val135Leu | |
| ENST00000359125.7:c.403G>T MANE Select | ENSP00000352035.2:p.Val135Leu | |
| ENST00000636255.1:n.141G>T | ||
| ENST00000636846.1:n.111G>T | ||
| ENST00000637193.1:c.-117G>T | ENSP00000490734.1:n.-117G>T | |
| ENST00000637704.1:n.38G>T | ||
| ENST00000344425.7:c.403G>T | ENSP00000345523.5:p.Val135Leu | |
| ENST00000344462.8:c.403G>T | ENSP00000339611.4:p.Val135Leu | |
| ENST00000357249.6:c.61G>T | ENSP00000349789.3:p.Val21Leu | |
| ENST00000359125.6:c.403G>T | ENSP00000352035.2:p.Val135Leu | |
| ENST00000360480.7:c.403G>T | ENSP00000353668.3:p.Val135Leu | |
| ENST00000370221.3:n.529G>T | ||
| ENST00000370224.5:c.403G>T | ENSP00000359244.2:p.Val135Leu | |
| ENST00000625514.2:c.403G>T | ENSP00000486040.1:p.Val135Leu | |
| ENST00000626313.1:n.245G>T | ||
| ENST00000626839.2:c.403G>T | ENSP00000486706.1:p.Val135Leu | |
| ENST00000629241.2:c.403G>T | ENSP00000487142.1:p.Val135Leu | |
| ENST00000629676.2:c.403G>T | ENSP00000486194.1:p.Val135Leu | |
| ENST00000630274.2:n.228G>T | ||
| NM_004518.4:c.403G>T | NP_004509.2:p.Val135Leu | |
| NM_172106.1:c.403G>T | NP_742104.1:p.Val135Leu | |
| NM_172107.2:c.403G>T | NP_742105.1:p.Val135Leu | |
| NM_172108.3:c.403G>T | NP_742106.1:p.Val135Leu | |
| NM_172109.1:c.403G>T | NP_742107.1:p.Val135Leu | |
| XM_006723787.1:c.403G>T | XP_006723850.1:p.Val135Leu | |
| XM_011528807.1:c.403G>T | XP_011527109.1:p.Val135Leu | |
| XM_011528808.1:c.403G>T | XP_011527110.1:p.Val135Leu | |
| XM_011528809.1:c.403G>T | XP_011527111.1:p.Val135Leu | |
| XM_011528810.1:c.403G>T | XP_011527112.1:p.Val135Leu | |
| XM_011528811.1:c.403G>T | XP_011527113.1:p.Val135Leu | |
| XM_011528812.1:c.403G>T | XP_011527114.1:p.Val135Leu | |
| XM_011528813.1:c.403G>T | XP_011527115.1:p.Val135Leu | |
| XM_011528814.1:c.-117G>T | XP_011527116.1:n.-117G>T | |
| XM_011528815.1:c.403G>T | XP_011527117.1:p.Val135Leu | |
| XM_011528816.1:c.403G>T | XP_011527118.1:p.Val135Leu | |
| NM_004518.5:c.403G>T | NP_004509.2:p.Val135Leu | |
| NM_172106.2:c.403G>T | NP_742104.1:p.Val135Leu | |
| NM_172107.3:c.403G>T | NP_742105.1:p.Val135Leu | |
| NM_172108.4:c.403G>T | NP_742106.1:p.Val135Leu | |
| NM_172109.2:c.403G>T | NP_742107.1:p.Val135Leu | |
| XM_011528810.2:c.403G>T | XP_011527112.1:p.Val135Leu | |
| XM_011528811.2:c.403G>T | XP_011527113.1:p.Val135Leu | |
| XM_017027841.2:c.403G>T | XP_016883330.1:p.Val135Leu | |
| XM_017027842.2:c.403G>T | XP_016883331.1:p.Val135Leu | |
| XM_017027843.1:c.334G>T | XP_016883332.1:p.Val112Leu | |
| XM_017027844.2:c.403G>T | XP_016883333.1:p.Val135Leu | |
| NM_004518.6:c.403G>T | NP_004509.2:p.Val135Leu | |
| NM_172106.3:c.403G>T | NP_742104.1:p.Val135Leu | |
| NM_172107.4:c.403G>T MANE Select | NP_742105.1:p.Val135Leu | |
| NM_172108.5:c.403G>T | NP_742106.1:p.Val135Leu | |
| NM_172109.3:c.403G>T | NP_742107.1:p.Val135Leu | |
| NM_001382235.1:c.403G>T | NP_001369164.1:p.Val135Leu |