Linked Data
ClinVar Variation Id:
46987
ClinVar RCV Id:
RCV000040257
RCV000243472
RCV000312455
RCV000271569
RCV000306752
RCV000407483
RCV000350900
RCV000363806
RCV000755420
RCV000770032
RCV001528376
dbSNP Id:
rs17354992
ExAC:
2:179486223 C / T
gnomAD v2:
2-179486223-C-T
gnomAD v3:
2-178621496-C-T
gnomAD v4:
2-178621496-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178621496C>T , CM000664.2:g.178621496C>T | GRCh38 |
| NC_000002.11:g.179486223C>T , CM000664.1:g.179486223C>T | GRCh37 |
| NC_000002.10:g.179194468C>T | NCBI36 |
| NG_011618.3:g.214307G>A , LRG_391:g.214307G>A | |
| NG_051363.1:g.103670C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.37624G>A | ENSP00000343764.6:p.Asp12542Asn | |
| ENST00000342175.11:c.18709G>A | ENSP00000340554.6:p.Asp6237Asn | |
| ENST00000359218.10:c.18508G>A | ENSP00000352154.5:p.Asp6170Asn | |
| ENST00000342175.10:c.18709G>A | ENSP00000340554.6:p.Asp6237Asn | |
| ENST00000342992.10:c.37624G>A | ENSP00000343764.6:p.Asp12542Asn | |
| ENST00000359218.9:c.18508G>A | ENSP00000352154.5:p.Asp6170Asn | |
| ENST00000460472.6:c.18133G>A | ENSP00000434586.1:p.Asp6045Asn | |
| ENST00000589042.5:c.45328G>A MANE Select | ENSP00000467141.1:p.Asp15110Asn | |
| ENST00000591111.5:c.40405G>A | ENSP00000465570.1:p.Asp13469Asn | |
| ENST00000615779.4:c.40405G>A | ENSP00000483597.1:p.Asp13469Asn | |
| NM_001256850.1:c.40405G>A | NP_001243779.1:p.Asp13469Asn | |
| NM_001267550.2:c.45328G>A MANE Select | NP_001254479.2:p.Asp15110Asn | |
| NM_003319.4:c.18133G>A | NP_003310.4:p.Asp6045Asn | |
| NM_133378.4:c.37624G>A | NP_596869.4:p.Asp12542Asn | |
| NM_133432.3:c.18508G>A | NP_597676.3:p.Asp6170Asn | |
| NM_133437.4:c.18709G>A | NP_597681.4:p.Asp6237Asn | |
| XM_011511729.1:c.44425G>A | XP_011510031.1:p.Asp14809Asn | |
| XM_011511730.1:c.18319G>A | XP_011510032.1:p.Asp6107Asn | |
| XM_011511731.1:c.18178G>A | XP_011510033.1:p.Asp6060Asn | |
| XM_017004819.1:c.44221G>A | XP_016860308.1:p.Asp14741Asn | |
| XM_017004820.1:c.39619G>A | XP_016860309.1:p.Asp13207Asn | |
| XM_017004821.1:c.39616G>A | XP_016860310.1:p.Asp13206Asn | |
| XM_017004822.1:c.36658G>A | XP_016860311.1:p.Asp12220Asn | |
| XM_017004823.1:c.18274G>A | XP_016860312.1:p.Asp6092Asn | |
| XM_024453094.1:c.39769G>A | XP_024308862.1:p.Asp13257Asn | |
| XM_024453095.1:c.39766G>A | XP_024308863.1:p.Asp13256Asn | |
| XM_024453096.1:c.39199G>A | XP_024308864.1:p.Asp13067Asn | |
| XM_024453097.1:c.36541G>A | XP_024308865.1:p.Asp12181Asn | |
| XM_024453098.1:c.36460G>A | XP_024308866.1:p.Asp12154Asn | |
| XM_024453099.1:c.18223G>A | XP_024308867.1:p.Asp6075Asn | |
| XM_024453100.1:c.8077G>A | XP_024308868.1:p.Asp2693Asn |