Linked Data
ClinVar Variation Id:
134084
dbSNP Id:
rs55943169
ExAC:
17:37884176 C / A
gnomAD v2:
17-37884176-C-A
gnomAD v3:
17-39727923-C-A
gnomAD v4:
17-39727923-C-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727923C>A , CM000679.2:g.39727923C>A | GRCh38 |
| NC_000017.10:g.37884176C>A , CM000679.1:g.37884176C>A | GRCh37 |
| NC_000017.9:g.35137702C>A | NCBI36 |
| NG_007503.1:g.44784C>A , LRG_724:g.44784C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3647C>A MANE Select | ENSP00000269571.4:p.Ala1216Asp | |
| ENST00000269571.9:c.3647C>A | ENSP00000269571.4:p.Ala1216Asp | |
| ENST00000406381.6:c.3557C>A | ENSP00000385185.2:p.Ala1186Asp | |
| ENST00000445658.6:c.2819C>A | ENSP00000404047.2:p.Ala940Asp | |
| ENST00000541774.5:c.3602C>A | ENSP00000446466.1:p.Ala1201Asp | |
| ENST00000578373.5:c.*3437C>A | ENSP00000463427.1:n.*3437C>A | |
| ENST00000584450.5:c.*226C>A | ENSP00000463714.1:n.*226C>A | |
| ENST00000584601.5:c.3557C>A | ENSP00000462438.1:p.Ala1186Asp | |
| NM_001005862.2:c.3557C>A , LRG_724t1:c.3557C>A | NP_001005862.1:p.Ala1186Asp | |
| NM_001289936.1:c.3602C>A , LRG_724t4:c.3602C>A | NP_001276865.1:p.Ala1201Asp | |
| NM_001289937.1:c.*226C>A | NP_001276866.1:n.*226C>A | |
| NM_004448.3:c.3647C>A , LRG_724t2:c.3647C>A | NP_004439.2:p.Ala1216Asp | |
| NR_110535.1:n.3971C>A | ||
| XM_024450641.1:c.3785C>A | XP_024306409.1:p.Ala1262Asp | |
| XM_024450642.1:c.3740C>A | XP_024306410.1:p.Ala1247Asp | |
| XM_024450643.1:c.3695C>A | XP_024306411.1:p.Ala1232Asp | |
| NM_001005862.3:c.3557C>A | NP_001005862.1:p.Ala1186Asp | |
| NM_001289936.2:c.3602C>A | NP_001276865.1:p.Ala1201Asp | |
| NM_001289937.2:c.*226C>A | NP_001276866.1:n.*226C>A | |
| NM_001382782.1:c.3557C>A | NP_001369711.1:p.Ala1186Asp | |
| NM_001382783.1:c.3557C>A | NP_001369712.1:p.Ala1186Asp | |
| NM_001382784.1:c.3764C>A | NP_001369713.1:p.Ala1255Asp | |
| NM_001382785.1:c.3749C>A | NP_001369714.1:p.Ala1250Asp | |
| NM_001382786.1:c.3728C>A | NP_001369715.1:p.Ala1243Asp | |
| NM_001382787.1:c.3722C>A | NP_001369716.1:p.Ala1241Asp | |
| NM_001382788.1:c.3677C>A | NP_001369717.1:p.Ala1226Asp | |
| NM_001382789.1:c.3668C>A | NP_001369718.1:p.Ala1223Asp | |
| NM_001382790.1:c.3644C>A | NP_001369719.1:p.Ala1215Asp | |
| NM_001382791.1:c.3638C>A | NP_001369720.1:p.Ala1213Asp | |
| NM_001382792.1:c.3611C>A | NP_001369721.1:p.Ala1204Asp | |
| NM_001382793.1:c.3605C>A | NP_001369722.1:p.Ala1202Asp | |
| NM_001382794.1:c.3605C>A | NP_001369723.1:p.Ala1202Asp | |
| NM_001382795.1:c.3599C>A | NP_001369724.1:p.Ala1200Asp | |
| NM_001382796.1:c.3560C>A | NP_001369725.1:p.Ala1187Asp | |
| NM_001382797.1:c.3548C>A | NP_001369726.1:p.Ala1183Asp | |
| NM_001382798.1:c.3491C>A | NP_001369727.1:p.Ala1164Asp | |
| NM_001382799.1:c.3467C>A | NP_001369728.1:p.Ala1156Asp | |
| NM_001382800.1:c.3461C>A | NP_001369729.1:p.Ala1154Asp | |
| NM_001382801.1:c.3443C>A | NP_001369730.1:p.Ala1148Asp | |
| NM_001382802.1:c.3389C>A | NP_001369731.1:p.Ala1130Asp | |
| NM_001382803.1:c.*226C>A | NP_001369732.1:n.*226C>A | |
| NM_001382804.1:c.2819C>A | NP_001369733.1:p.Ala940Asp | |
| NM_001382805.1:c.2696C>A | NP_001369734.1:p.Ala899Asp | |
| NM_001382806.1:c.2609C>A | NP_001369735.1:p.Ala870Asp | |
| NM_004448.4:c.3647C>A MANE Select | NP_004439.2:p.Ala1216Asp | |
| NR_110535.2:n.3885C>A |