Linked Data
ClinVar Variation Id:
461417
dbSNP Id:
rs759258191
ExAC:
20:62038304 G / A
gnomAD v2:
20-62038304-G-A
gnomAD v3:
20-63406951-G-A
gnomAD v4:
20-63406951-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63406951G>A , CM000682.2:g.63406951G>A | GRCh38 |
| NC_000020.10:g.62038304G>A , CM000682.1:g.62038304G>A | GRCh37 |
| NC_000020.9:g.61508748G>A | NCBI36 |
| NG_009004.1:g.70690C>T | |
| NG_009004.2:g.70690C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2366C>T | ENSP00000516702.1:p.Thr789Ile | |
| ENST00000359125.7:c.2312C>T MANE Select | ENSP00000352035.2:p.Thr771Ile | |
| ENST00000637193.1:c.1709C>T | ENSP00000490734.1:p.Thr570Ile | |
| ENST00000344462.8:c.2219C>T | ENSP00000339611.4:p.Thr740Ile | |
| ENST00000357249.6:c.1880C>T | ENSP00000349789.3:p.Thr627Ile | |
| ENST00000359125.6:c.2312C>T | ENSP00000352035.2:p.Thr771Ile | |
| ENST00000360480.7:c.2228C>T | ENSP00000353668.3:p.Thr743Ile | |
| ENST00000370224.5:c.2241+95C>T | ENSP00000359244.2:n.2241+95C>T | |
| ENST00000625514.2:c.2205+95C>T | ENSP00000486040.1:n.2205+95C>T | |
| ENST00000626839.2:c.2258C>T | ENSP00000486706.1:p.Thr753Ile | |
| ENST00000629241.2:c.2133+95C>T | ENSP00000487142.1:n.2133+95C>T | |
| ENST00000629676.2:c.1680-6108C>T | ENSP00000486194.1:n.1680-6108C>T | |
| NM_004518.4:c.2228C>T | NP_004509.2:p.Thr743Ile | |
| NM_172106.1:c.2258C>T | NP_742104.1:p.Thr753Ile | |
| NM_172107.2:c.2312C>T | NP_742105.1:p.Thr771Ile | |
| NM_172108.3:c.2219C>T | NP_742106.1:p.Thr740Ile | |
| XM_006723787.1:c.2354C>T | XP_006723850.1:p.Thr785Ile | |
| XM_011528807.1:c.2420C>T | XP_011527109.1:p.Thr807Ile | |
| XM_011528808.1:c.2417C>T | XP_011527110.1:p.Thr806Ile | |
| XM_011528809.1:c.2390C>T | XP_011527111.1:p.Thr797Ile | |
| XM_011528810.1:c.2366C>T | XP_011527112.1:p.Thr789Ile | |
| XM_011528811.1:c.2336C>T | XP_011527113.1:p.Thr779Ile | |
| XM_011528812.1:c.2309C>T | XP_011527114.1:p.Thr770Ile | |
| XM_011528813.1:c.2294C>T | XP_011527115.1:p.Thr765Ile | |
| XM_011528814.1:c.1901C>T | XP_011527116.1:p.Thr634Ile | |
| NM_004518.5:c.2228C>T | NP_004509.2:p.Thr743Ile | |
| NM_172106.2:c.2258C>T | NP_742104.1:p.Thr753Ile | |
| NM_172107.3:c.2312C>T | NP_742105.1:p.Thr771Ile | |
| NM_172108.4:c.2219C>T | NP_742106.1:p.Thr740Ile | |
| XM_011528810.2:c.2366C>T | XP_011527112.1:p.Thr789Ile | |
| XM_011528811.2:c.2336C>T | XP_011527113.1:p.Thr779Ile | |
| XM_017027841.2:c.2363C>T | XP_016883330.1:p.Thr788Ile | |
| XM_017027842.2:c.2300C>T | XP_016883331.1:p.Thr767Ile | |
| XM_017027843.1:c.2297C>T | XP_016883332.1:p.Thr766Ile | |
| XM_017027844.2:c.2255C>T | XP_016883333.1:p.Thr752Ile | |
| XM_017027845.1:c.1328C>T | XP_016883334.1:p.Thr443Ile | |
| NM_004518.6:c.2228C>T | NP_004509.2:p.Thr743Ile | |
| NM_172106.3:c.2258C>T | NP_742104.1:p.Thr753Ile | |
| NM_172107.4:c.2312C>T MANE Select | NP_742105.1:p.Thr771Ile | |
| NM_172108.5:c.2219C>T | NP_742106.1:p.Thr740Ile | |
| NM_001382235.1:c.2366C>T | NP_001369164.1:p.Thr789Ile |