COSMIC:
COSM6035905 (not active)
COSM6035906 (not active)
COSM6035907 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00087878 (NFE)
Genomes Max Group AF
0.0006381 (NFE)
Exomes Max Group AF
0.00088492 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63408473G>A , CM000682.2:g.63408473G>A | GRCh38 |
| NC_000020.10:g.62039826G>A , CM000682.1:g.62039826G>A | GRCh37 |
| NC_000020.9:g.61510270G>A | NCBI36 |
| NG_009004.1:g.69168C>T | |
| NG_009004.2:g.69168C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.1881C>T | ENSP00000516702.1:p.Ala627= | |
| ENST00000359125.7:c.1827C>T MANE Select | ENSP00000352035.2:p.Ala609= | |
| ENST00000637063.1:n.12C>T | ||
| ENST00000637193.1:c.1224C>T | ENSP00000490734.1:p.Ala408= | |
| ENST00000344462.8:c.1734C>T | ENSP00000339611.4:p.Ala578= | |
| ENST00000357249.6:c.1395C>T | ENSP00000349789.3:p.Ala465= | |
| ENST00000359125.6:c.1827C>T | ENSP00000352035.2:p.Ala609= | |
| ENST00000360480.7:c.1743C>T | ENSP00000353668.3:p.Ala581= | |
| ENST00000370224.5:c.1851C>T | ENSP00000359244.2:p.Ala617= | |
| ENST00000625514.2:c.1815C>T | ENSP00000486040.1:p.Ala605= | |
| ENST00000626839.2:c.1773C>T | ENSP00000486706.1:p.Ala591= | |
| ENST00000629241.2:c.1743C>T | ENSP00000487142.1:p.Ala581= | |
| ENST00000629676.2:c.1679+4977C>T | ENSP00000486194.1:n.1679+4977C>T | |
| NM_004518.4:c.1743C>T | NP_004509.2:p.Ala581= | |
| NM_172106.1:c.1773C>T | NP_742104.1:p.Ala591= | |
| NM_172107.2:c.1827C>T | NP_742105.1:p.Ala609= | |
| NM_172108.3:c.1734C>T | NP_742106.1:p.Ala578= | |
| XM_006723787.1:c.1869C>T | XP_006723850.1:p.Ala623= | |
| XM_011528807.1:c.1935C>T | XP_011527109.1:p.Ala645= | |
| XM_011528808.1:c.1932C>T | XP_011527110.1:p.Ala644= | |
| XM_011528809.1:c.1905C>T | XP_011527111.1:p.Ala635= | |
| XM_011528810.1:c.1881C>T | XP_011527112.1:p.Ala627= | |
| XM_011528811.1:c.1851C>T | XP_011527113.1:p.Ala617= | |
| XM_011528812.1:c.1824C>T | XP_011527114.1:p.Ala608= | |
| XM_011528813.1:c.1809C>T | XP_011527115.1:p.Ala603= | |
| XM_011528814.1:c.1416C>T | XP_011527116.1:p.Ala472= | |
| XM_011528815.1:c.1935C>T | XP_011527117.1:p.Ala645= | |
| NM_004518.5:c.1743C>T | NP_004509.2:p.Ala581= | |
| NM_172106.2:c.1773C>T | NP_742104.1:p.Ala591= | |
| NM_172107.3:c.1827C>T | NP_742105.1:p.Ala609= | |
| NM_172108.4:c.1734C>T | NP_742106.1:p.Ala578= | |
| XM_011528810.2:c.1881C>T | XP_011527112.1:p.Ala627= | |
| XM_011528811.2:c.1851C>T | XP_011527113.1:p.Ala617= | |
| XM_017027841.2:c.1878C>T | XP_016883330.1:p.Ala626= | |
| XM_017027842.2:c.1815C>T | XP_016883331.1:p.Ala605= | |
| XM_017027843.1:c.1812C>T | XP_016883332.1:p.Ala604= | |
| XM_017027844.2:c.1770C>T | XP_016883333.1:p.Ala590= | |
| XM_017027845.1:c.843C>T | XP_016883334.1:p.Ala281= | |
| NM_004518.6:c.1743C>T | NP_004509.2:p.Ala581= | |
| NM_172106.3:c.1773C>T | NP_742104.1:p.Ala591= | |
| NM_172107.4:c.1827C>T MANE Select | NP_742105.1:p.Ala609= | |
| NM_172108.5:c.1734C>T | NP_742106.1:p.Ala578= | |
| NM_001382235.1:c.1881C>T | NP_001369164.1:p.Ala627= |