Linked Data
ClinVar Variation Id:
129334
dbSNP Id:
rs587780366
gnomAD v2:
20-62038335-C-T
gnomAD v4:
20-63406982-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63406982C>T , CM000682.2:g.63406982C>T | GRCh38 |
| NC_000020.10:g.62038335C>T , CM000682.1:g.62038335C>T | GRCh37 |
| NC_000020.9:g.61508779C>T | NCBI36 |
| NG_009004.1:g.70659G>A | |
| NG_009004.2:g.70659G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2335G>A | ENSP00000516702.1:p.Ala779Thr | |
| ENST00000359125.7:c.2281G>A MANE Select | ENSP00000352035.2:p.Ala761Thr | |
| ENST00000637193.1:c.1678G>A | ENSP00000490734.1:p.Ala560Thr | |
| ENST00000344462.8:c.2188G>A | ENSP00000339611.4:p.Ala730Thr | |
| ENST00000357249.6:c.1849G>A | ENSP00000349789.3:p.Ala617Thr | |
| ENST00000359125.6:c.2281G>A | ENSP00000352035.2:p.Ala761Thr | |
| ENST00000360480.7:c.2197G>A | ENSP00000353668.3:p.Ala733Thr | |
| ENST00000370224.5:c.2241+64G>A | ENSP00000359244.2:n.2241+64G>A | |
| ENST00000625514.2:c.2205+64G>A | ENSP00000486040.1:n.2205+64G>A | |
| ENST00000626839.2:c.2227G>A | ENSP00000486706.1:p.Ala743Thr | |
| ENST00000629241.2:c.2133+64G>A | ENSP00000487142.1:n.2133+64G>A | |
| ENST00000629676.2:c.1680-6139G>A | ENSP00000486194.1:n.1680-6139G>A | |
| NM_004518.4:c.2197G>A | NP_004509.2:p.Ala733Thr | |
| NM_172106.1:c.2227G>A | NP_742104.1:p.Ala743Thr | |
| NM_172107.2:c.2281G>A | NP_742105.1:p.Ala761Thr | |
| NM_172108.3:c.2188G>A | NP_742106.1:p.Ala730Thr | |
| XM_006723787.1:c.2323G>A | XP_006723850.1:p.Ala775Thr | |
| XM_011528807.1:c.2389G>A | XP_011527109.1:p.Ala797Thr | |
| XM_011528808.1:c.2386G>A | XP_011527110.1:p.Ala796Thr | |
| XM_011528809.1:c.2359G>A | XP_011527111.1:p.Ala787Thr | |
| XM_011528810.1:c.2335G>A | XP_011527112.1:p.Ala779Thr | |
| XM_011528811.1:c.2305G>A | XP_011527113.1:p.Ala769Thr | |
| XM_011528812.1:c.2278G>A | XP_011527114.1:p.Ala760Thr | |
| XM_011528813.1:c.2263G>A | XP_011527115.1:p.Ala755Thr | |
| XM_011528814.1:c.1870G>A | XP_011527116.1:p.Ala624Thr | |
| NM_004518.5:c.2197G>A | NP_004509.2:p.Ala733Thr | |
| NM_172106.2:c.2227G>A | NP_742104.1:p.Ala743Thr | |
| NM_172107.3:c.2281G>A | NP_742105.1:p.Ala761Thr | |
| NM_172108.4:c.2188G>A | NP_742106.1:p.Ala730Thr | |
| XM_011528810.2:c.2335G>A | XP_011527112.1:p.Ala779Thr | |
| XM_011528811.2:c.2305G>A | XP_011527113.1:p.Ala769Thr | |
| XM_017027841.2:c.2332G>A | XP_016883330.1:p.Ala778Thr | |
| XM_017027842.2:c.2269G>A | XP_016883331.1:p.Ala757Thr | |
| XM_017027843.1:c.2266G>A | XP_016883332.1:p.Ala756Thr | |
| XM_017027844.2:c.2224G>A | XP_016883333.1:p.Ala742Thr | |
| XM_017027845.1:c.1297G>A | XP_016883334.1:p.Ala433Thr | |
| NM_004518.6:c.2197G>A | NP_004509.2:p.Ala733Thr | |
| NM_172106.3:c.2227G>A | NP_742104.1:p.Ala743Thr | |
| NM_172107.4:c.2281G>A MANE Select | NP_742105.1:p.Ala761Thr | |
| NM_172108.5:c.2188G>A | NP_742106.1:p.Ala730Thr | |
| NM_001382235.1:c.2335G>A | NP_001369164.1:p.Ala779Thr |