Linked Data
ClinVar Variation Id:
528794
dbSNP Id:
rs372749477
ExAC:
16:10996506 C / T
gnomAD v2:
16-10996506-C-T
gnomAD v3:
16-10902649-C-T
gnomAD v4:
16-10902649-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10902649C>T , CM000678.2:g.10902649C>T | GRCh38 |
| NC_000016.9:g.10996506C>T , CM000678.1:g.10996506C>T | GRCh37 |
| NC_000016.8:g.10904007C>T | NCBI36 |
| NG_009628.1:g.30452C>T , LRG_49:g.30452C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695879.1:n.654-9C>T | ||
| ENST00000324288.14:c.629-9C>T MANE Select | ENSP00000316328.8:n.629-9C>T | |
| ENST00000324288.12:c.629-9C>T | ENSP00000316328.8:n.629-9C>T | |
| ENST00000381835.9:c.482-9C>T | ENSP00000371257.5:n.482-9C>T | |
| ENST00000537380.1:n.629-9C>T | ||
| ENST00000570546.5:n.750-9C>T | ||
| ENST00000571186.5:c.*350-9C>T | ENSP00000459829.1:n.*350-9C>T | |
| ENST00000573309.5:n.600-9C>T | ||
| ENST00000611587.4:c.485-9C>T | ENSP00000483487.1:n.485-9C>T | |
| ENST00000618207.4:c.629-9C>T | ENSP00000484761.1:n.629-9C>T | |
| ENST00000618327.4:c.632-9C>T | ENSP00000485010.1:n.632-9C>T | |
| NM_000246.3:c.629-9C>T , LRG_49t1:c.629-9C>T | NP_000237.2:n.629-9C>T | |
| NM_001286402.1:c.632-9C>T | NP_001273331.1:n.632-9C>T | |
| NM_001286403.1:c.482-9C>T | NP_001273332.1:n.482-9C>T | |
| NR_104444.1:n.762-9C>T | ||
| XM_006720880.2:c.926-9C>T | XP_006720943.2:n.926-9C>T | |
| XM_011522484.1:c.926-9C>T | XP_011520786.1:n.926-9C>T | |
| XM_011522485.1:c.926-9C>T | XP_011520787.1:n.926-9C>T | |
| XM_011522486.1:c.926-9C>T | XP_011520788.1:n.926-9C>T | |
| XM_011522487.1:c.680-9C>T | XP_011520789.1:n.680-9C>T | |
| XM_011522488.1:c.677-9C>T | XP_011520790.1:n.677-9C>T | |
| XM_011522489.1:c.677-9C>T | XP_011520791.1:n.677-9C>T | |
| XM_011522490.1:c.674-9C>T | XP_011520792.1:n.674-9C>T | |
| XM_011522491.1:c.926-9C>T | XP_011520793.1:n.926-9C>T | |
| XM_011522492.1:c.632-9C>T | XP_011520794.1:n.632-9C>T | |
| XM_011522493.1:c.629-9C>T | XP_011520795.1:n.629-9C>T | |
| XM_011522494.1:c.560-9C>T | XP_011520796.1:n.560-9C>T | |
| XM_011522495.1:c.485-9C>T | XP_011520797.1:n.485-9C>T | |
| XM_011522496.1:c.482-9C>T | XP_011520798.1:n.482-9C>T | |
| XR_932841.1:n.941-9C>T | ||
| XR_932842.1:n.941-9C>T | ||
| XR_932843.1:n.941-9C>T | ||
| XR_932846.1:n.941-9C>T | ||
| XR_932847.1:n.941-9C>T | ||
| XR_932848.1:n.632-9C>T | ||
| XM_006720880.3:c.926-9C>T | XP_006720943.2:n.926-9C>T | |
| XM_011522484.3:c.926-9C>T | XP_011520786.1:n.926-9C>T | |
| XM_011522485.2:c.926-9C>T | XP_011520787.1:n.926-9C>T | |
| XM_011522486.2:c.926-9C>T | XP_011520788.1:n.926-9C>T | |
| XM_011522487.2:c.680-9C>T | XP_011520789.1:n.680-9C>T | |
| XM_011522488.2:c.677-9C>T | XP_011520790.1:n.677-9C>T | |
| XM_011522489.2:c.677-9C>T | XP_011520791.1:n.677-9C>T | |
| XM_011522490.2:c.674-9C>T | XP_011520792.1:n.674-9C>T | |
| XM_011522491.2:c.926-9C>T | XP_011520793.1:n.926-9C>T | |
| XM_011522492.2:c.632-9C>T | XP_011520794.1:n.632-9C>T | |
| XM_011522493.2:c.629-9C>T | XP_011520795.1:n.629-9C>T | |
| XM_011522494.2:c.560-9C>T | XP_011520796.1:n.560-9C>T | |
| XM_011522495.2:c.485-9C>T | XP_011520797.1:n.485-9C>T | |
| XM_011522496.2:c.482-9C>T | XP_011520798.1:n.482-9C>T | |
| XM_024450280.1:c.872-9C>T | XP_024306048.1:n.872-9C>T | |
| XM_024450281.1:c.725-9C>T | XP_024306049.1:n.725-9C>T | |
| XR_001751904.1:n.945-9C>T | ||
| XR_932841.3:n.943-9C>T | ||
| XR_932842.2:n.943-9C>T | ||
| XR_932846.3:n.945-9C>T | ||
| XR_932847.3:n.945-9C>T | ||
| NM_001286403.2:c.482-9C>T | NP_001273332.1:n.482-9C>T | |
| NR_104444.2:n.758-9C>T | ||
| NM_000246.4:c.629-9C>T MANE Select | NP_000237.2:n.629-9C>T | |
| NM_001379330.1:c.485-9C>T | NP_001366259.1:n.485-9C>T | |
| NM_001379331.1:c.482-9C>T | NP_001366260.1:n.482-9C>T | |
| NM_001379332.1:c.632-9C>T | NP_001366261.1:n.632-9C>T | |
| NM_001379333.1:c.629-9C>T | NP_001366262.1:n.629-9C>T | |
| NM_001379334.1:c.560-9C>T | NP_001366263.1:n.560-9C>T |