Linked Data
ClinVar Variation Id:
1038229
ClinVar RCV Id:
RCV001341504
dbSNP Id:
rs750108040
gnomAD v2:
20-62038146-C-T
gnomAD v4:
20-63406793-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63406793C>T , CM000682.2:g.63406793C>T | GRCh38 |
| NC_000020.10:g.62038146C>T , CM000682.1:g.62038146C>T | GRCh37 |
| NC_000020.9:g.61508590C>T | NCBI36 |
| NG_009004.1:g.70848G>A | |
| NG_009004.2:g.70848G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2524G>A | ENSP00000516702.1:p.Val842Met | |
| ENST00000359125.7:c.2470G>A MANE Select | ENSP00000352035.2:p.Val824Met | |
| ENST00000637193.1:c.1867G>A | ENSP00000490734.1:p.Val623Met | |
| ENST00000344462.8:c.2377G>A | ENSP00000339611.4:p.Val793Met | |
| ENST00000357249.6:c.2038G>A | ENSP00000349789.3:p.Val680Met | |
| ENST00000359125.6:c.2470G>A | ENSP00000352035.2:p.Val824Met | |
| ENST00000360480.7:c.2386G>A | ENSP00000353668.3:p.Val796Met | |
| ENST00000370224.5:c.2241+253G>A | ENSP00000359244.2:n.2241+253G>A | |
| ENST00000625514.2:c.2205+253G>A | ENSP00000486040.1:n.2205+253G>A | |
| ENST00000626839.2:c.2416G>A | ENSP00000486706.1:p.Val806Met | |
| ENST00000629241.2:c.2133+253G>A | ENSP00000487142.1:n.2133+253G>A | |
| ENST00000629676.2:c.1680-5950G>A | ENSP00000486194.1:n.1680-5950G>A | |
| NM_004518.4:c.2386G>A | NP_004509.2:p.Val796Met | |
| NM_172106.1:c.2416G>A | NP_742104.1:p.Val806Met | |
| NM_172107.2:c.2470G>A | NP_742105.1:p.Val824Met | |
| NM_172108.3:c.2377G>A | NP_742106.1:p.Val793Met | |
| XM_006723787.1:c.2512G>A | XP_006723850.1:p.Val838Met | |
| XM_011528807.1:c.2578G>A | XP_011527109.1:p.Val860Met | |
| XM_011528808.1:c.2575G>A | XP_011527110.1:p.Val859Met | |
| XM_011528809.1:c.2548G>A | XP_011527111.1:p.Val850Met | |
| XM_011528810.1:c.2524G>A | XP_011527112.1:p.Val842Met | |
| XM_011528811.1:c.2494G>A | XP_011527113.1:p.Val832Met | |
| XM_011528812.1:c.2467G>A | XP_011527114.1:p.Val823Met | |
| XM_011528813.1:c.2452G>A | XP_011527115.1:p.Val818Met | |
| XM_011528814.1:c.2059G>A | XP_011527116.1:p.Val687Met | |
| NM_004518.5:c.2386G>A | NP_004509.2:p.Val796Met | |
| NM_172106.2:c.2416G>A | NP_742104.1:p.Val806Met | |
| NM_172107.3:c.2470G>A | NP_742105.1:p.Val824Met | |
| NM_172108.4:c.2377G>A | NP_742106.1:p.Val793Met | |
| XM_011528810.2:c.2524G>A | XP_011527112.1:p.Val842Met | |
| XM_011528811.2:c.2494G>A | XP_011527113.1:p.Val832Met | |
| XM_017027841.2:c.2521G>A | XP_016883330.1:p.Val841Met | |
| XM_017027842.2:c.2458G>A | XP_016883331.1:p.Val820Met | |
| XM_017027843.1:c.2455G>A | XP_016883332.1:p.Val819Met | |
| XM_017027844.2:c.2413G>A | XP_016883333.1:p.Val805Met | |
| XM_017027845.1:c.1486G>A | XP_016883334.1:p.Val496Met | |
| NM_004518.6:c.2386G>A | NP_004509.2:p.Val796Met | |
| NM_172106.3:c.2416G>A | NP_742104.1:p.Val806Met | |
| NM_172107.4:c.2470G>A MANE Select | NP_742105.1:p.Val824Met | |
| NM_172108.5:c.2377G>A | NP_742106.1:p.Val793Met | |
| NM_001382235.1:c.2524G>A | NP_001369164.1:p.Val842Met |