Linked Data
ClinVar Variation Id:
1011047
ClinVar RCV Id:
RCV001308788
dbSNP Id:
rs2080245324
gnomAD v4:
20-63415074-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63415074C>T , CM000682.2:g.63415074C>T | GRCh38 |
| NC_000020.10:g.62046427C>T , CM000682.1:g.62046427C>T | GRCh37 |
| NC_000020.9:g.61516871C>T | NCBI36 |
| NG_009004.1:g.62567G>A | |
| NG_009004.2:g.62567G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.1300G>A | ENSP00000516702.1:p.Ala434Thr | |
| ENST00000359125.7:c.1354G>A MANE Select | ENSP00000352035.2:p.Ala452Thr | |
| ENST00000637193.1:c.751G>A | ENSP00000490734.1:p.Ala251Thr | |
| ENST00000637584.1:n.91G>A | ||
| ENST00000344462.8:c.1264G>A | ENSP00000339611.4:p.Ala422Thr | |
| ENST00000357249.6:c.922G>A | ENSP00000349789.3:p.Ala308Thr | |
| ENST00000359125.6:c.1354G>A | ENSP00000352035.2:p.Ala452Thr | |
| ENST00000360480.7:c.1270G>A | ENSP00000353668.3:p.Ala424Thr | |
| ENST00000370224.5:c.1270G>A | ENSP00000359244.2:p.Ala424Thr | |
| ENST00000625514.2:c.1234G>A | ENSP00000486040.1:p.Ala412Thr | |
| ENST00000626839.2:c.1300G>A | ENSP00000486706.1:p.Ala434Thr | |
| ENST00000627221.2:c.414G>A | ||
| ENST00000629241.2:c.1270G>A | ENSP00000487142.1:p.Ala424Thr | |
| ENST00000629676.2:c.1270G>A | ENSP00000486194.1:p.Ala424Thr | |
| NM_004518.4:c.1270G>A | NP_004509.2:p.Ala424Thr | |
| NM_172106.1:c.1300G>A | NP_742104.1:p.Ala434Thr | |
| NM_172107.2:c.1354G>A | NP_742105.1:p.Ala452Thr | |
| NM_172108.3:c.1264G>A | NP_742106.1:p.Ala422Thr | |
| XM_006723787.1:c.1354G>A | XP_006723850.1:p.Ala452Thr | |
| XM_011528807.1:c.1354G>A | XP_011527109.1:p.Ala452Thr | |
| XM_011528808.1:c.1354G>A | XP_011527110.1:p.Ala452Thr | |
| XM_011528809.1:c.1324G>A | XP_011527111.1:p.Ala442Thr | |
| XM_011528810.1:c.1300G>A | XP_011527112.1:p.Ala434Thr | |
| XM_011528811.1:c.1270G>A | XP_011527113.1:p.Ala424Thr | |
| XM_011528812.1:c.1354G>A | XP_011527114.1:p.Ala452Thr | |
| XM_011528813.1:c.1228G>A | XP_011527115.1:p.Ala410Thr | |
| XM_011528814.1:c.835G>A | XP_011527116.1:p.Ala279Thr | |
| XM_011528815.1:c.1354G>A | XP_011527117.1:p.Ala452Thr | |
| NM_004518.5:c.1270G>A | NP_004509.2:p.Ala424Thr | |
| NM_172106.2:c.1300G>A | NP_742104.1:p.Ala434Thr | |
| NM_172107.3:c.1354G>A | NP_742105.1:p.Ala452Thr | |
| NM_172108.4:c.1264G>A | NP_742106.1:p.Ala422Thr | |
| XM_011528810.2:c.1300G>A | XP_011527112.1:p.Ala434Thr | |
| XM_011528811.2:c.1270G>A | XP_011527113.1:p.Ala424Thr | |
| XM_017027841.2:c.1300G>A | XP_016883330.1:p.Ala434Thr | |
| XM_017027842.2:c.1300G>A | XP_016883331.1:p.Ala434Thr | |
| XM_017027843.1:c.1231G>A | XP_016883332.1:p.Ala411Thr | |
| XM_017027844.2:c.1300G>A | XP_016883333.1:p.Ala434Thr | |
| XM_017027845.1:c.262G>A | XP_016883334.1:p.Ala88Thr | |
| NM_004518.6:c.1270G>A | NP_004509.2:p.Ala424Thr | |
| NM_172106.3:c.1300G>A | NP_742104.1:p.Ala434Thr | |
| NM_172107.4:c.1354G>A MANE Select | NP_742105.1:p.Ala452Thr | |
| NM_172108.5:c.1264G>A | NP_742106.1:p.Ala422Thr | |
| NM_001382235.1:c.1300G>A | NP_001369164.1:p.Ala434Thr |