gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008498 (SAS)
Exomes Max Group AF
0.00008948 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63408500C>T , CM000682.2:g.63408500C>T | GRCh38 |
| NC_000020.10:g.62039853C>T , CM000682.1:g.62039853C>T | GRCh37 |
| NC_000020.9:g.61510297C>T | NCBI36 |
| NG_009004.1:g.69141G>A | |
| NG_009004.2:g.69141G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.1854G>A | ENSP00000516702.1:p.Thr618= | |
| ENST00000359125.7:c.1800G>A MANE Select | ENSP00000352035.2:p.Thr600= | |
| ENST00000636614.1:c.126G>A | ||
| ENST00000637193.1:c.1197G>A | ENSP00000490734.1:p.Thr399= | |
| ENST00000344462.8:c.1707G>A | ENSP00000339611.4:p.Thr569= | |
| ENST00000357249.6:c.1368G>A | ENSP00000349789.3:p.Thr456= | |
| ENST00000359125.6:c.1800G>A | ENSP00000352035.2:p.Thr600= | |
| ENST00000360480.7:c.1716G>A | ENSP00000353668.3:p.Thr572= | |
| ENST00000370224.5:c.1824G>A | ENSP00000359244.2:p.Thr608= | |
| ENST00000625514.2:c.1788G>A | ENSP00000486040.1:p.Thr596= | |
| ENST00000626839.2:c.1746G>A | ENSP00000486706.1:p.Thr582= | |
| ENST00000629241.2:c.1716G>A | ENSP00000487142.1:p.Thr572= | |
| ENST00000629676.2:c.1679+4950G>A | ENSP00000486194.1:n.1679+4950G>A | |
| NM_004518.4:c.1716G>A | NP_004509.2:p.Thr572= | |
| NM_172106.1:c.1746G>A | NP_742104.1:p.Thr582= | |
| NM_172107.2:c.1800G>A | NP_742105.1:p.Thr600= | |
| NM_172108.3:c.1707G>A | NP_742106.1:p.Thr569= | |
| XM_006723787.1:c.1842G>A | XP_006723850.1:p.Thr614= | |
| XM_011528807.1:c.1908G>A | XP_011527109.1:p.Thr636= | |
| XM_011528808.1:c.1905G>A | XP_011527110.1:p.Thr635= | |
| XM_011528809.1:c.1878G>A | XP_011527111.1:p.Thr626= | |
| XM_011528810.1:c.1854G>A | XP_011527112.1:p.Thr618= | |
| XM_011528811.1:c.1824G>A | XP_011527113.1:p.Thr608= | |
| XM_011528812.1:c.1797G>A | XP_011527114.1:p.Thr599= | |
| XM_011528813.1:c.1782G>A | XP_011527115.1:p.Thr594= | |
| XM_011528814.1:c.1389G>A | XP_011527116.1:p.Thr463= | |
| XM_011528815.1:c.1908G>A | XP_011527117.1:p.Thr636= | |
| NM_004518.5:c.1716G>A | NP_004509.2:p.Thr572= | |
| NM_172106.2:c.1746G>A | NP_742104.1:p.Thr582= | |
| NM_172107.3:c.1800G>A | NP_742105.1:p.Thr600= | |
| NM_172108.4:c.1707G>A | NP_742106.1:p.Thr569= | |
| XM_011528810.2:c.1854G>A | XP_011527112.1:p.Thr618= | |
| XM_011528811.2:c.1824G>A | XP_011527113.1:p.Thr608= | |
| XM_017027841.2:c.1851G>A | XP_016883330.1:p.Thr617= | |
| XM_017027842.2:c.1788G>A | XP_016883331.1:p.Thr596= | |
| XM_017027843.1:c.1785G>A | XP_016883332.1:p.Thr595= | |
| XM_017027844.2:c.1743G>A | XP_016883333.1:p.Thr581= | |
| XM_017027845.1:c.816G>A | XP_016883334.1:p.Thr272= | |
| NM_004518.6:c.1716G>A | NP_004509.2:p.Thr572= | |
| NM_172106.3:c.1746G>A | NP_742104.1:p.Thr582= | |
| NM_172107.4:c.1800G>A MANE Select | NP_742105.1:p.Thr600= | |
| NM_172108.5:c.1707G>A | NP_742106.1:p.Thr569= | |
| NM_001382235.1:c.1854G>A | NP_001369164.1:p.Thr618= |