Linked Data
ClinVar Variation Id:
528781
dbSNP Id:
rs1555500356
gnomAD v3:
16-10895399-C-A
gnomAD v4:
16-10895399-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10895399C>A , CM000678.2:g.10895399C>A | GRCh38 |
| NC_000016.9:g.10989256C>A , CM000678.1:g.10989256C>A | GRCh37 |
| NC_000016.8:g.10896757C>A | NCBI36 |
| NG_009628.1:g.23202C>A , LRG_49:g.23202C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695878.1:n.275C>A | ||
| ENST00000695879.1:n.192C>A | ||
| ENST00000324288.14:c.170C>A MANE Select | ENSP00000316328.8:p.Ala57Asp | |
| ENST00000636238.1:c.98C>A | ENSP00000490205.1:p.Ala33Asp | |
| ENST00000637439.1:c.401C>A | ENSP00000489907.1:p.Ala134Asp | |
| ENST00000324288.12:c.170C>A | ENSP00000316328.8:p.Ala57Asp | |
| ENST00000381835.9:c.170C>A | ENSP00000371257.5:p.Ala57Asp | |
| ENST00000537380.1:n.170C>A | ||
| ENST00000570546.5:n.291C>A | ||
| ENST00000571186.5:c.170C>A | ENSP00000459829.1:p.Ala57Asp | |
| ENST00000573309.5:n.285C>A | ||
| ENST00000576601.1:c.98C>A | ENSP00000459608.1:p.Ala33Asp | |
| ENST00000611587.4:c.170C>A | ENSP00000483487.1:p.Ala57Asp | |
| ENST00000618207.4:c.170C>A | ENSP00000484761.1:p.Ala57Asp | |
| ENST00000618327.4:c.170C>A | ENSP00000485010.1:p.Ala57Asp | |
| NM_000246.3:c.170C>A , LRG_49t1:c.170C>A | NP_000237.2:p.Ala57Asp | |
| NM_001286402.1:c.170C>A | NP_001273331.1:p.Ala57Asp | |
| NM_001286403.1:c.170C>A | NP_001273332.1:p.Ala57Asp | |
| NR_104444.1:n.303C>A | ||
| XM_006720880.2:c.464C>A | XP_006720943.2:p.Ala155Asp | |
| XM_011522484.1:c.464C>A | XP_011520786.1:p.Ala155Asp | |
| XM_011522485.1:c.464C>A | XP_011520787.1:p.Ala155Asp | |
| XM_011522486.1:c.464C>A | XP_011520788.1:p.Ala155Asp | |
| XM_011522487.1:c.365C>A | XP_011520789.1:p.Ala122Asp | |
| XM_011522488.1:c.215C>A | XP_011520790.1:p.Ala72Asp | |
| XM_011522489.1:c.365C>A | XP_011520791.1:p.Ala122Asp | |
| XM_011522490.1:c.215C>A | XP_011520792.1:p.Ala72Asp | |
| XM_011522491.1:c.464C>A | XP_011520793.1:p.Ala155Asp | |
| XM_011522492.1:c.170C>A | XP_011520794.1:p.Ala57Asp | |
| XM_011522493.1:c.170C>A | XP_011520795.1:p.Ala57Asp | |
| XM_011522494.1:c.98C>A | XP_011520796.1:p.Ala33Asp | |
| XM_011522495.1:c.170C>A | XP_011520797.1:p.Ala57Asp | |
| XM_011522496.1:c.170C>A | XP_011520798.1:p.Ala57Asp | |
| XR_932841.1:n.479C>A | ||
| XR_932842.1:n.479C>A | ||
| XR_932843.1:n.479C>A | ||
| XR_932846.1:n.479C>A | ||
| XR_932847.1:n.479C>A | ||
| XR_932848.1:n.320C>A | ||
| XM_006720880.3:c.464C>A | XP_006720943.2:p.Ala155Asp | |
| XM_011522484.3:c.464C>A | XP_011520786.1:p.Ala155Asp | |
| XM_011522485.2:c.464C>A | XP_011520787.1:p.Ala155Asp | |
| XM_011522486.2:c.464C>A | XP_011520788.1:p.Ala155Asp | |
| XM_011522487.2:c.365C>A | XP_011520789.1:p.Ala122Asp | |
| XM_011522488.2:c.215C>A | XP_011520790.1:p.Ala72Asp | |
| XM_011522489.2:c.365C>A | XP_011520791.1:p.Ala122Asp | |
| XM_011522490.2:c.215C>A | XP_011520792.1:p.Ala72Asp | |
| XM_011522491.2:c.464C>A | XP_011520793.1:p.Ala155Asp | |
| XM_011522492.2:c.170C>A | XP_011520794.1:p.Ala57Asp | |
| XM_011522493.2:c.170C>A | XP_011520795.1:p.Ala57Asp | |
| XM_011522494.2:c.98C>A | XP_011520796.1:p.Ala33Asp | |
| XM_011522495.2:c.170C>A | XP_011520797.1:p.Ala57Asp | |
| XM_011522496.2:c.170C>A | XP_011520798.1:p.Ala57Asp | |
| XM_024450280.1:c.170C>A | XP_024306048.1:p.Ala57Asp | |
| XM_024450281.1:c.170C>A | XP_024306049.1:p.Ala57Asp | |
| XR_001751904.1:n.483C>A | ||
| XR_002957858.1:n.417-1955G>T | ||
| XR_002957859.1:n.417-1955G>T | ||
| XR_932841.3:n.481C>A | ||
| XR_932842.2:n.481C>A | ||
| XR_932846.3:n.483C>A | ||
| XR_932847.3:n.483C>A | ||
| NM_001286403.2:c.170C>A | NP_001273332.1:p.Ala57Asp | |
| NR_104444.2:n.299C>A | ||
| NM_000246.4:c.170C>A MANE Select | NP_000237.2:p.Ala57Asp | |
| NM_001379330.1:c.170C>A | NP_001366259.1:p.Ala57Asp | |
| NM_001379331.1:c.170C>A | NP_001366260.1:p.Ala57Asp | |
| NM_001379332.1:c.170C>A | NP_001366261.1:p.Ala57Asp | |
| NM_001379333.1:c.170C>A | NP_001366262.1:p.Ala57Asp | |
| NM_001379334.1:c.98C>A | NP_001366263.1:p.Ala33Asp |