gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00232648 (EAS)
Genomes Max Group AF
0.00076579 (EAS)
Exomes Max Group AF
0.00244567 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71677525C>T , CM000672.2:g.71677525C>T | GRCh38 |
| NC_000010.10:g.73437282C>T , CM000672.1:g.73437282C>T | GRCh37 |
| NC_000010.9:g.73107288C>T | NCBI36 |
| NG_008835.1:g.285579C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.1584C>T MANE Select | ENSP00000224721.9:p.Arg528= | |
| ENST00000398809.9:c.1584C>T | ENSP00000381789.5:p.Arg528= | |
| ENST00000442677.4:c.1584C>T | ENSP00000388894.3:p.Arg528= | |
| ENST00000466757.8:c.1015C>T | ||
| ENST00000224721.10:c.1599C>T | ENSP00000224721.8:p.Arg533= | |
| ENST00000299366.11:c.1584C>T | ENSP00000299366.8:p.Arg528= | |
| ENST00000398809.8:c.1584C>T | ENSP00000381789.5:p.Arg528= | |
| ENST00000442677.3:c.359C>T | ||
| ENST00000466757.7:c.1015C>T | ||
| ENST00000616684.4:c.1584C>T | ENSP00000482036.2:p.Arg528= | |
| ENST00000622827.4:c.1584C>T | ENSP00000483211.1:p.Arg528= | |
| NM_001171930.1:c.1584C>T | NP_001165401.1:p.Arg528= | |
| NM_001171931.1:c.1584C>T | NP_001165402.1:p.Arg528= | |
| NM_022124.5:c.1584C>T | NP_071407.4:p.Arg528= | |
| XM_006717940.2:c.1779C>T | XP_006718003.1:p.Arg593= | |
| XM_006717942.2:c.1713C>T | XP_006718005.1:p.Arg571= | |
| XM_011540039.1:c.1779C>T | XP_011538341.1:p.Arg593= | |
| XM_011540040.1:c.1773C>T | XP_011538342.1:p.Arg591= | |
| XM_011540041.1:c.1719C>T | XP_011538343.1:p.Arg573= | |
| XM_011540042.1:c.1779C>T | XP_011538344.1:p.Arg593= | |
| XM_011540043.1:c.1779C>T | XP_011538345.1:p.Arg593= | |
| XM_011540044.1:c.1644C>T | XP_011538346.1:p.Arg548= | |
| XM_011540045.1:c.1779C>T | XP_011538347.1:p.Arg593= | |
| XM_011540046.1:c.1239C>T | XP_011538348.1:p.Arg413= | |
| XM_011540047.1:c.597C>T | XP_011538349.1:p.Arg199= | |
| XM_011540048.1:c.1779C>T | XP_011538350.1:p.Arg593= | |
| XM_011540049.1:c.1779C>T | XP_011538351.1:p.Arg593= | |
| XM_011540050.1:c.1779C>T | XP_011538352.1:p.Arg593= | |
| XM_011540051.1:c.1779C>T | XP_011538353.1:p.Arg593= | |
| XM_011540053.1:c.1779C>T | XP_011538355.1:p.Arg593= | |
| XM_011540054.1:c.1719C>T | XP_011538356.1:p.Arg573= | |
| XR_945796.1:n.2022C>T | ||
| NM_001171930.2:c.1584C>T | NP_001165401.1:p.Arg528= | |
| NM_001171931.2:c.1584C>T | NP_001165402.1:p.Arg528= | |
| NM_022124.6:c.1584C>T MANE Select | NP_071407.4:p.Arg528= |