ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00128847 (SAS)
Genomes Max Group AF
0.00040793 (SAS)
Exomes Max Group AF
0.00130687 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10907418C>T , CM000678.2:g.10907418C>T | GRCh38 |
| NC_000016.9:g.11001275C>T , CM000678.1:g.11001275C>T | GRCh37 |
| NC_000016.8:g.10908776C>T | NCBI36 |
| NG_009628.1:g.35221C>T , LRG_49:g.35221C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695879.1:n.1820C>T | ||
| ENST00000324288.14:c.1926C>T MANE Select | ENSP00000316328.8:p.Val642= | |
| ENST00000324288.12:c.1926C>T | ENSP00000316328.8:p.Val642= | |
| ENST00000381835.9:c.860-1565C>T | ENSP00000371257.5:n.860-1565C>T | |
| ENST00000537380.1:n.1006+2606C>T | ||
| ENST00000570546.5:n.2047C>T | ||
| ENST00000573309.5:n.1897C>T | ||
| ENST00000611587.4:c.1782C>T | ENSP00000483487.1:p.Val594= | |
| ENST00000618207.4:c.1006+2606C>T | ENSP00000484761.1:n.1006+2606C>T | |
| ENST00000618327.4:c.1929C>T | ENSP00000485010.1:p.Val643= | |
| NM_000246.3:c.1926C>T , LRG_49t1:c.1926C>T | NP_000237.2:p.Val642= | |
| NM_001286402.1:c.1929C>T | NP_001273331.1:p.Val643= | |
| NM_001286403.1:c.860-1565C>T | NP_001273332.1:n.860-1565C>T | |
| NR_104444.1:n.1139+2606C>T | ||
| XM_006720880.2:c.2223C>T | XP_006720943.2:p.Val741= | |
| XM_011522484.1:c.2223C>T | XP_011520786.1:p.Val741= | |
| XM_011522485.1:c.2223C>T | XP_011520787.1:p.Val741= | |
| XM_011522486.1:c.2223C>T | XP_011520788.1:p.Val741= | |
| XM_011522487.1:c.1977C>T | XP_011520789.1:p.Val659= | |
| XM_011522488.1:c.1974C>T | XP_011520790.1:p.Val658= | |
| XM_011522489.1:c.1974C>T | XP_011520791.1:p.Val658= | |
| XM_011522490.1:c.1971C>T | XP_011520792.1:p.Val657= | |
| XM_011522491.1:c.2223C>T | XP_011520793.1:p.Val741= | |
| XM_011522492.1:c.1929C>T | XP_011520794.1:p.Val643= | |
| XM_011522493.1:c.1926C>T | XP_011520795.1:p.Val642= | |
| XM_011522494.1:c.1857C>T | XP_011520796.1:p.Val619= | |
| XM_011522495.1:c.1782C>T | XP_011520797.1:p.Val594= | |
| XM_011522496.1:c.1779C>T | XP_011520798.1:p.Val593= | |
| XR_932841.1:n.2238C>T | ||
| XR_932842.1:n.2238C>T | ||
| XR_932843.1:n.2238C>T | ||
| XR_932846.1:n.2238C>T | ||
| XR_932847.1:n.2238C>T | ||
| XR_932848.1:n.1010-1565C>T | ||
| XM_006720880.3:c.2223C>T | XP_006720943.2:p.Val741= | |
| XM_011522484.3:c.2223C>T | XP_011520786.1:p.Val741= | |
| XM_011522485.2:c.2223C>T | XP_011520787.1:p.Val741= | |
| XM_011522486.2:c.2223C>T | XP_011520788.1:p.Val741= | |
| XM_011522487.2:c.1977C>T | XP_011520789.1:p.Val659= | |
| XM_011522488.2:c.1974C>T | XP_011520790.1:p.Val658= | |
| XM_011522489.2:c.1974C>T | XP_011520791.1:p.Val658= | |
| XM_011522490.2:c.1971C>T | XP_011520792.1:p.Val657= | |
| XM_011522491.2:c.2223C>T | XP_011520793.1:p.Val741= | |
| XM_011522492.2:c.1929C>T | XP_011520794.1:p.Val643= | |
| XM_011522493.2:c.1926C>T | XP_011520795.1:p.Val642= | |
| XM_011522494.2:c.1857C>T | XP_011520796.1:p.Val619= | |
| XM_011522495.2:c.1782C>T | XP_011520797.1:p.Val594= | |
| XM_011522496.2:c.1779C>T | XP_011520798.1:p.Val593= | |
| XM_024450280.1:c.2169C>T | XP_024306048.1:p.Val723= | |
| XM_024450281.1:c.2022C>T | XP_024306049.1:p.Val674= | |
| XR_001751904.1:n.2242C>T | ||
| XR_932841.3:n.2240C>T | ||
| XR_932842.2:n.2240C>T | ||
| XR_932846.3:n.2242C>T | ||
| XR_932847.3:n.2242C>T | ||
| NM_001286403.2:c.860-1565C>T | NP_001273332.1:n.860-1565C>T | |
| NR_104444.2:n.1135+2606C>T | ||
| NM_000246.4:c.1926C>T MANE Select | NP_000237.2:p.Val642= | |
| NM_001379330.1:c.1782C>T | NP_001366259.1:p.Val594= | |
| NM_001379331.1:c.1779C>T | NP_001366260.1:p.Val593= | |
| NM_001379332.1:c.1929C>T | NP_001366261.1:p.Val643= | |
| NM_001379333.1:c.1926C>T | NP_001366262.1:p.Val642= | |
| NM_001379334.1:c.1857C>T | NP_001366263.1:p.Val619= |