Linked Data
ClinVar Variation Id:
129332
dbSNP Id:
rs146492238
ExAC:
20:62046433 C / T
gnomAD v2:
20-62046433-C-T
gnomAD v3:
20-63415080-C-T
gnomAD v4:
20-63415080-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63415080C>T , CM000682.2:g.63415080C>T | GRCh38 |
| NC_000020.10:g.62046433C>T , CM000682.1:g.62046433C>T | GRCh37 |
| NC_000020.9:g.61516877C>T | NCBI36 |
| NG_009004.1:g.62561G>A | |
| NG_009004.2:g.62561G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.1294G>A | ENSP00000516702.1:p.Val432Met | |
| ENST00000359125.7:c.1348G>A MANE Select | ENSP00000352035.2:p.Val450Met | |
| ENST00000637193.1:c.745G>A | ENSP00000490734.1:p.Val249Met | |
| ENST00000637584.1:n.85G>A | ||
| ENST00000344462.8:c.1258G>A | ENSP00000339611.4:p.Val420Met | |
| ENST00000357249.6:c.916G>A | ENSP00000349789.3:p.Val306Met | |
| ENST00000359125.6:c.1348G>A | ENSP00000352035.2:p.Val450Met | |
| ENST00000360480.7:c.1264G>A | ENSP00000353668.3:p.Val422Met | |
| ENST00000370224.5:c.1264G>A | ENSP00000359244.2:p.Val422Met | |
| ENST00000625514.2:c.1228G>A | ENSP00000486040.1:p.Val410Met | |
| ENST00000626839.2:c.1294G>A | ENSP00000486706.1:p.Val432Met | |
| ENST00000627221.2:c.408G>A | ||
| ENST00000629241.2:c.1264G>A | ENSP00000487142.1:p.Val422Met | |
| ENST00000629676.2:c.1264G>A | ENSP00000486194.1:p.Val422Met | |
| NM_004518.4:c.1264G>A | NP_004509.2:p.Val422Met | |
| NM_172106.1:c.1294G>A | NP_742104.1:p.Val432Met | |
| NM_172107.2:c.1348G>A | NP_742105.1:p.Val450Met | |
| NM_172108.3:c.1258G>A | NP_742106.1:p.Val420Met | |
| XM_006723787.1:c.1348G>A | XP_006723850.1:p.Val450Met | |
| XM_011528807.1:c.1348G>A | XP_011527109.1:p.Val450Met | |
| XM_011528808.1:c.1348G>A | XP_011527110.1:p.Val450Met | |
| XM_011528809.1:c.1318G>A | XP_011527111.1:p.Val440Met | |
| XM_011528810.1:c.1294G>A | XP_011527112.1:p.Val432Met | |
| XM_011528811.1:c.1264G>A | XP_011527113.1:p.Val422Met | |
| XM_011528812.1:c.1348G>A | XP_011527114.1:p.Val450Met | |
| XM_011528813.1:c.1222G>A | XP_011527115.1:p.Val408Met | |
| XM_011528814.1:c.829G>A | XP_011527116.1:p.Val277Met | |
| XM_011528815.1:c.1348G>A | XP_011527117.1:p.Val450Met | |
| NM_004518.5:c.1264G>A | NP_004509.2:p.Val422Met | |
| NM_172106.2:c.1294G>A | NP_742104.1:p.Val432Met | |
| NM_172107.3:c.1348G>A | NP_742105.1:p.Val450Met | |
| NM_172108.4:c.1258G>A | NP_742106.1:p.Val420Met | |
| XM_011528810.2:c.1294G>A | XP_011527112.1:p.Val432Met | |
| XM_011528811.2:c.1264G>A | XP_011527113.1:p.Val422Met | |
| XM_017027841.2:c.1294G>A | XP_016883330.1:p.Val432Met | |
| XM_017027842.2:c.1294G>A | XP_016883331.1:p.Val432Met | |
| XM_017027843.1:c.1225G>A | XP_016883332.1:p.Val409Met | |
| XM_017027844.2:c.1294G>A | XP_016883333.1:p.Val432Met | |
| XM_017027845.1:c.256G>A | XP_016883334.1:p.Val86Met | |
| NM_004518.6:c.1264G>A | NP_004509.2:p.Val422Met | |
| NM_172106.3:c.1294G>A | NP_742104.1:p.Val432Met | |
| NM_172107.4:c.1348G>A MANE Select | NP_742105.1:p.Val450Met | |
| NM_172108.5:c.1258G>A | NP_742106.1:p.Val420Met | |
| NM_001382235.1:c.1294G>A | NP_001369164.1:p.Val432Met |