Linked Data
ClinVar Variation Id:
1701058
ClinVar RCV Id:
RCV002276342
dbSNP Id:
rs2145483961
gnomAD v4:
20-63406900-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63406900A>G , CM000682.2:g.63406900A>G | GRCh38 |
| NC_000020.10:g.62038253A>G , CM000682.1:g.62038253A>G | GRCh37 |
| NC_000020.9:g.61508697A>G | NCBI36 |
| NG_009004.1:g.70741T>C | |
| NG_009004.2:g.70741T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2417T>C | ENSP00000516702.1:p.Ile806Thr | |
| ENST00000359125.7:c.2363T>C MANE Select | ENSP00000352035.2:p.Ile788Thr | |
| ENST00000637193.1:c.1760T>C | ENSP00000490734.1:p.Ile587Thr | |
| ENST00000344462.8:c.2270T>C | ENSP00000339611.4:p.Ile757Thr | |
| ENST00000357249.6:c.1931T>C | ENSP00000349789.3:p.Ile644Thr | |
| ENST00000359125.6:c.2363T>C | ENSP00000352035.2:p.Ile788Thr | |
| ENST00000360480.7:c.2279T>C | ENSP00000353668.3:p.Ile760Thr | |
| ENST00000370224.5:c.2241+146T>C | ENSP00000359244.2:n.2241+146T>C | |
| ENST00000625514.2:c.2205+146T>C | ENSP00000486040.1:n.2205+146T>C | |
| ENST00000626839.2:c.2309T>C | ENSP00000486706.1:p.Ile770Thr | |
| ENST00000629241.2:c.2133+146T>C | ENSP00000487142.1:n.2133+146T>C | |
| ENST00000629676.2:c.1680-6057T>C | ENSP00000486194.1:n.1680-6057T>C | |
| NM_004518.4:c.2279T>C | NP_004509.2:p.Ile760Thr | |
| NM_172106.1:c.2309T>C | NP_742104.1:p.Ile770Thr | |
| NM_172107.2:c.2363T>C | NP_742105.1:p.Ile788Thr | |
| NM_172108.3:c.2270T>C | NP_742106.1:p.Ile757Thr | |
| XM_006723787.1:c.2405T>C | XP_006723850.1:p.Ile802Thr | |
| XM_011528807.1:c.2471T>C | XP_011527109.1:p.Ile824Thr | |
| XM_011528808.1:c.2468T>C | XP_011527110.1:p.Ile823Thr | |
| XM_011528809.1:c.2441T>C | XP_011527111.1:p.Ile814Thr | |
| XM_011528810.1:c.2417T>C | XP_011527112.1:p.Ile806Thr | |
| XM_011528811.1:c.2387T>C | XP_011527113.1:p.Ile796Thr | |
| XM_011528812.1:c.2360T>C | XP_011527114.1:p.Ile787Thr | |
| XM_011528813.1:c.2345T>C | XP_011527115.1:p.Ile782Thr | |
| XM_011528814.1:c.1952T>C | XP_011527116.1:p.Ile651Thr | |
| NM_004518.5:c.2279T>C | NP_004509.2:p.Ile760Thr | |
| NM_172106.2:c.2309T>C | NP_742104.1:p.Ile770Thr | |
| NM_172107.3:c.2363T>C | NP_742105.1:p.Ile788Thr | |
| NM_172108.4:c.2270T>C | NP_742106.1:p.Ile757Thr | |
| XM_011528810.2:c.2417T>C | XP_011527112.1:p.Ile806Thr | |
| XM_011528811.2:c.2387T>C | XP_011527113.1:p.Ile796Thr | |
| XM_017027841.2:c.2414T>C | XP_016883330.1:p.Ile805Thr | |
| XM_017027842.2:c.2351T>C | XP_016883331.1:p.Ile784Thr | |
| XM_017027843.1:c.2348T>C | XP_016883332.1:p.Ile783Thr | |
| XM_017027844.2:c.2306T>C | XP_016883333.1:p.Ile769Thr | |
| XM_017027845.1:c.1379T>C | XP_016883334.1:p.Ile460Thr | |
| NM_004518.6:c.2279T>C | NP_004509.2:p.Ile760Thr | |
| NM_172106.3:c.2309T>C | NP_742104.1:p.Ile770Thr | |
| NM_172107.4:c.2363T>C MANE Select | NP_742105.1:p.Ile788Thr | |
| NM_172108.5:c.2270T>C | NP_742106.1:p.Ile757Thr | |
| NM_001382235.1:c.2417T>C | NP_001369164.1:p.Ile806Thr |