Linked Data
dbSNP Id:
rs3747851
ExAC:
9:124521260 G / A
gnomAD v2:
9-124521260-G-A
gnomAD v3:
9-121758981-G-A
gnomAD v4:
9-121758981-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.121758981G>A , CM000671.2:g.121758981G>A | GRCh38 |
| NC_000009.11:g.124521260G>A , CM000671.1:g.124521260G>A | GRCh37 |
| NC_000009.10:g.123561081G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000408936.8:c.600G>A MANE Select | ENSP00000386183.3:p.Ala200= | |
| ENST00000699487.1:c.456G>A | ENSP00000514398.1:p.Ala152= | |
| ENST00000259371.7:c.516G>A | ENSP00000259371.2:p.Ala172= | |
| ENST00000436835.6:c.*34G>A | ENSP00000409327.2:n.*34G>A | |
| ENST00000648444.1:c.417G>A | ENSP00000497706.1:p.Ala139= | |
| ENST00000259371.6:c.516G>A | ENSP00000259371.2:p.Ala172= | |
| ENST00000309989.1:c.228G>A | ENSP00000310827.1:p.Ala76= | |
| ENST00000373782.7:c.327G>A | ENSP00000362887.3:p.Ala109= | |
| ENST00000394340.7:c.516G>A | ENSP00000377872.3:p.Ala172= | |
| ENST00000408936.7:c.600G>A | ENSP00000386183.3:p.Ala200= | |
| ENST00000436835.5:c.228G>A | ENSP00000409327.1:p.Ala76= | |
| NM_032552.3:c.516G>A | NP_115941.2:p.Ala172= | |
| NM_138709.2:c.228G>A | NP_619723.1:p.Ala76= | |
| XM_005251719.3:c.600G>A | XP_005251776.1:p.Ala200= | |
| XM_005251721.1:c.516G>A | XP_005251778.1:p.Ala172= | |
| XM_005251724.3:c.417G>A | XP_005251781.1:p.Ala139= | |
| XM_011518264.1:c.579G>A | XP_011516566.1:p.Ala193= | |
| XM_011518265.1:c.579G>A | XP_011516567.1:p.Ala193= | |
| XM_011518266.1:c.579G>A | XP_011516568.1:p.Ala193= | |
| XM_011518267.1:c.579G>A | XP_011516569.1:p.Ala193= | |
| XM_011518268.1:c.579G>A | XP_011516570.1:p.Ala193= | |
| XM_011518269.1:c.525G>A | XP_011516571.1:p.Ala175= | |
| XM_011518270.1:c.228G>A | XP_011516572.1:p.Ala76= | |
| XM_011518271.1:c.228G>A | XP_011516573.1:p.Ala76= | |
| XM_005251719.4:c.600G>A | XP_005251776.1:p.Ala200= | |
| XM_011518264.3:c.579G>A | XP_011516566.1:p.Ala193= | |
| XM_011518265.3:c.579G>A | XP_011516567.1:p.Ala193= | |
| XM_011518266.2:c.579G>A | XP_011516568.1:p.Ala193= | |
| XM_011518267.2:c.579G>A | XP_011516569.1:p.Ala193= | |
| XM_011518270.2:c.228G>A | XP_011516572.1:p.Ala76= | |
| XM_011518271.2:c.228G>A | XP_011516573.1:p.Ala76= | |
| XM_017014298.2:c.525G>A | XP_016869787.1:p.Ala175= | |
| XM_017014299.1:c.456G>A | XP_016869788.1:p.Ala152= | |
| XM_017014300.1:c.228G>A | XP_016869789.1:p.Ala76= | |
| XM_024447417.1:c.417G>A | XP_024303185.1:p.Ala139= | |
| XM_024447418.1:c.408G>A | XP_024303186.1:p.Ala136= | |
| NM_032552.4:c.516G>A | NP_115941.2:p.Ala172= | |
| NM_001395010.1:c.600G>A MANE Select | NP_001381939.1:p.Ala200= |