Linked Data
ClinVar Variation Id:
703067
ClinVar RCV Id:
RCV001393506
dbSNP Id:
rs771679143
gnomAD v2:
20-62038507-C-T
gnomAD v3:
20-63407154-C-T
gnomAD v4:
20-63407154-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63407154C>T , CM000682.2:g.63407154C>T | GRCh38 |
| NC_000020.10:g.62038507C>T , CM000682.1:g.62038507C>T | GRCh37 |
| NC_000020.9:g.61508951C>T | NCBI36 |
| NG_009004.1:g.70487G>A | |
| NG_009004.2:g.70487G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2163G>A | ENSP00000516702.1:p.Ala721= | |
| ENST00000359125.7:c.2109G>A MANE Select | ENSP00000352035.2:p.Ala703= | |
| ENST00000637193.1:c.1506G>A | ENSP00000490734.1:p.Ala502= | |
| ENST00000344462.8:c.2016G>A | ENSP00000339611.4:p.Ala672= | |
| ENST00000357249.6:c.1677G>A | ENSP00000349789.3:p.Ala559= | |
| ENST00000359125.6:c.2109G>A | ENSP00000352035.2:p.Ala703= | |
| ENST00000360480.7:c.2025G>A | ENSP00000353668.3:p.Ala675= | |
| ENST00000370224.5:c.2133G>A | ENSP00000359244.2:p.Ala711= | |
| ENST00000625514.2:c.2097G>A | ENSP00000486040.1:p.Ala699= | |
| ENST00000626839.2:c.2055G>A | ENSP00000486706.1:p.Ala685= | |
| ENST00000629241.2:c.2025G>A | ENSP00000487142.1:p.Ala675= | |
| ENST00000629676.2:c.1679+6296G>A | ENSP00000486194.1:n.1679+6296G>A | |
| NM_004518.4:c.2025G>A | NP_004509.2:p.Ala675= | |
| NM_172106.1:c.2055G>A | NP_742104.1:p.Ala685= | |
| NM_172107.2:c.2109G>A | NP_742105.1:p.Ala703= | |
| NM_172108.3:c.2016G>A | NP_742106.1:p.Ala672= | |
| XM_006723787.1:c.2151G>A | XP_006723850.1:p.Ala717= | |
| XM_011528807.1:c.2217G>A | XP_011527109.1:p.Ala739= | |
| XM_011528808.1:c.2214G>A | XP_011527110.1:p.Ala738= | |
| XM_011528809.1:c.2187G>A | XP_011527111.1:p.Ala729= | |
| XM_011528810.1:c.2163G>A | XP_011527112.1:p.Ala721= | |
| XM_011528811.1:c.2133G>A | XP_011527113.1:p.Ala711= | |
| XM_011528812.1:c.2106G>A | XP_011527114.1:p.Ala702= | |
| XM_011528813.1:c.2091G>A | XP_011527115.1:p.Ala697= | |
| XM_011528814.1:c.1698G>A | XP_011527116.1:p.Ala566= | |
| NM_004518.5:c.2025G>A | NP_004509.2:p.Ala675= | |
| NM_172106.2:c.2055G>A | NP_742104.1:p.Ala685= | |
| NM_172107.3:c.2109G>A | NP_742105.1:p.Ala703= | |
| NM_172108.4:c.2016G>A | NP_742106.1:p.Ala672= | |
| XM_011528810.2:c.2163G>A | XP_011527112.1:p.Ala721= | |
| XM_011528811.2:c.2133G>A | XP_011527113.1:p.Ala711= | |
| XM_017027841.2:c.2160G>A | XP_016883330.1:p.Ala720= | |
| XM_017027842.2:c.2097G>A | XP_016883331.1:p.Ala699= | |
| XM_017027843.1:c.2094G>A | XP_016883332.1:p.Ala698= | |
| XM_017027844.2:c.2052G>A | XP_016883333.1:p.Ala684= | |
| XM_017027845.1:c.1125G>A | XP_016883334.1:p.Ala375= | |
| NM_004518.6:c.2025G>A | NP_004509.2:p.Ala675= | |
| NM_172106.3:c.2055G>A | NP_742104.1:p.Ala685= | |
| NM_172107.4:c.2109G>A MANE Select | NP_742105.1:p.Ala703= | |
| NM_172108.5:c.2016G>A | NP_742106.1:p.Ala672= | |
| NM_001382235.1:c.2163G>A | NP_001369164.1:p.Ala721= |