Linked Data
ClinVar Variation Id:
1131529
ClinVar RCV Id:
RCV001465464
dbSNP Id:
rs764680545
gnomAD v2:
16-10996010-G-A
gnomAD v4:
16-10902153-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10902153G>A , CM000678.2:g.10902153G>A | GRCh38 |
| NC_000016.9:g.10996010G>A , CM000678.1:g.10996010G>A | GRCh37 |
| NC_000016.8:g.10903511G>A | NCBI36 |
| NG_009628.1:g.29956G>A , LRG_49:g.29956G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695879.1:n.622G>A | ||
| ENST00000324288.14:c.597G>A MANE Select | ENSP00000316328.8:p.Gln199= | |
| ENST00000324288.12:c.597G>A | ENSP00000316328.8:p.Gln199= | |
| ENST00000381835.9:c.482-505G>A | ENSP00000371257.5:n.482-505G>A | |
| ENST00000537380.1:n.597G>A | ||
| ENST00000570546.5:n.718G>A | ||
| ENST00000571186.5:c.*318G>A | ENSP00000459829.1:n.*318G>A | |
| ENST00000573309.5:n.600-505G>A | ||
| ENST00000576601.1:c.525G>A | ENSP00000459608.1:p.Gln175= | |
| ENST00000611587.4:c.485-505G>A | ENSP00000483487.1:n.485-505G>A | |
| ENST00000618207.4:c.597G>A | ENSP00000484761.1:p.Gln199= | |
| ENST00000618327.4:c.600G>A | ENSP00000485010.1:p.Gln200= | |
| NM_000246.3:c.597G>A , LRG_49t1:c.597G>A | NP_000237.2:p.Gln199= | |
| NM_001286402.1:c.600G>A | NP_001273331.1:p.Gln200= | |
| NM_001286403.1:c.482-505G>A | NP_001273332.1:n.482-505G>A | |
| NR_104444.1:n.730G>A | ||
| XM_006720880.2:c.894G>A | XP_006720943.2:p.Gln298= | |
| XM_011522484.1:c.894G>A | XP_011520786.1:p.Gln298= | |
| XM_011522485.1:c.894G>A | XP_011520787.1:p.Gln298= | |
| XM_011522486.1:c.894G>A | XP_011520788.1:p.Gln298= | |
| XM_011522487.1:c.680-505G>A | XP_011520789.1:n.680-505G>A | |
| XM_011522488.1:c.645G>A | XP_011520790.1:p.Gln215= | |
| XM_011522489.1:c.677-505G>A | XP_011520791.1:n.677-505G>A | |
| XM_011522490.1:c.642G>A | XP_011520792.1:p.Gln214= | |
| XM_011522491.1:c.894G>A | XP_011520793.1:p.Gln298= | |
| XM_011522492.1:c.600G>A | XP_011520794.1:p.Gln200= | |
| XM_011522493.1:c.597G>A | XP_011520795.1:p.Gln199= | |
| XM_011522494.1:c.528G>A | XP_011520796.1:p.Gln176= | |
| XM_011522495.1:c.485-505G>A | XP_011520797.1:n.485-505G>A | |
| XM_011522496.1:c.482-505G>A | XP_011520798.1:n.482-505G>A | |
| XR_932841.1:n.909G>A | ||
| XR_932842.1:n.909G>A | ||
| XR_932843.1:n.909G>A | ||
| XR_932846.1:n.909G>A | ||
| XR_932847.1:n.909G>A | ||
| XR_932848.1:n.632-505G>A | ||
| XM_006720880.3:c.894G>A | XP_006720943.2:p.Gln298= | |
| XM_011522484.3:c.894G>A | XP_011520786.1:p.Gln298= | |
| XM_011522485.2:c.894G>A | XP_011520787.1:p.Gln298= | |
| XM_011522486.2:c.894G>A | XP_011520788.1:p.Gln298= | |
| XM_011522487.2:c.680-505G>A | XP_011520789.1:n.680-505G>A | |
| XM_011522488.2:c.645G>A | XP_011520790.1:p.Gln215= | |
| XM_011522489.2:c.677-505G>A | XP_011520791.1:n.677-505G>A | |
| XM_011522490.2:c.642G>A | XP_011520792.1:p.Gln214= | |
| XM_011522491.2:c.894G>A | XP_011520793.1:p.Gln298= | |
| XM_011522492.2:c.600G>A | XP_011520794.1:p.Gln200= | |
| XM_011522493.2:c.597G>A | XP_011520795.1:p.Gln199= | |
| XM_011522494.2:c.528G>A | XP_011520796.1:p.Gln176= | |
| XM_011522495.2:c.485-505G>A | XP_011520797.1:n.485-505G>A | |
| XM_011522496.2:c.482-505G>A | XP_011520798.1:n.482-505G>A | |
| XM_024450280.1:c.840G>A | XP_024306048.1:p.Gln280= | |
| XM_024450281.1:c.725-505G>A | XP_024306049.1:n.725-505G>A | |
| XR_001751904.1:n.913G>A | ||
| XR_932841.3:n.911G>A | ||
| XR_932842.2:n.911G>A | ||
| XR_932846.3:n.913G>A | ||
| XR_932847.3:n.913G>A | ||
| NM_001286403.2:c.482-505G>A | NP_001273332.1:n.482-505G>A | |
| NR_104444.2:n.726G>A | ||
| NM_000246.4:c.597G>A MANE Select | NP_000237.2:p.Gln199= | |
| NM_001379330.1:c.485-505G>A | NP_001366259.1:n.485-505G>A | |
| NM_001379331.1:c.482-505G>A | NP_001366260.1:n.482-505G>A | |
| NM_001379332.1:c.600G>A | NP_001366261.1:p.Gln200= | |
| NM_001379333.1:c.597G>A | NP_001366262.1:p.Gln199= | |
| NM_001379334.1:c.528G>A | NP_001366263.1:p.Gln176= |