Linked Data
ClinVar Variation Id:
404834
dbSNP Id:
rs571524382
ExAC:
2:179487462 C / T
gnomAD v2:
2-179487462-C-T
gnomAD v3:
2-178622735-C-T
gnomAD v4:
2-178622735-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178622735C>T , CM000664.2:g.178622735C>T | GRCh38 |
| NC_000002.11:g.179487462C>T , CM000664.1:g.179487462C>T | GRCh37 |
| NC_000002.10:g.179195707C>T | NCBI36 |
| NG_011618.3:g.213068G>A , LRG_391:g.213068G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.37144G>A | ENSP00000343764.6:p.Asp12382Asn | |
| ENST00000342175.11:c.18229G>A | ENSP00000340554.6:p.Asp6077Asn | |
| ENST00000359218.10:c.18028G>A | ENSP00000352154.5:p.Asp6010Asn | |
| ENST00000342175.10:c.18229G>A | ENSP00000340554.6:p.Asp6077Asn | |
| ENST00000342992.10:c.37144G>A | ENSP00000343764.6:p.Asp12382Asn | |
| ENST00000359218.9:c.18028G>A | ENSP00000352154.5:p.Asp6010Asn | |
| ENST00000460472.6:c.17653G>A | ENSP00000434586.1:p.Asp5885Asn | |
| ENST00000589042.5:c.44848G>A MANE Select | ENSP00000467141.1:p.Asp14950Asn | |
| ENST00000591111.5:c.39925G>A | ENSP00000465570.1:p.Asp13309Asn | |
| ENST00000615779.4:c.39925G>A | ENSP00000483597.1:p.Asp13309Asn | |
| NM_001256850.1:c.39925G>A | NP_001243779.1:p.Asp13309Asn | |
| NM_001267550.2:c.44848G>A MANE Select | NP_001254479.2:p.Asp14950Asn | |
| NM_003319.4:c.17653G>A | NP_003310.4:p.Asp5885Asn | |
| NM_133378.4:c.37144G>A | NP_596869.4:p.Asp12382Asn | |
| NM_133432.3:c.18028G>A | NP_597676.3:p.Asp6010Asn | |
| NM_133437.4:c.18229G>A | NP_597681.4:p.Asp6077Asn | |
| XM_011511729.1:c.43945G>A | XP_011510031.1:p.Asp14649Asn | |
| XM_011511730.1:c.17839G>A | XP_011510032.1:p.Asp5947Asn | |
| XM_011511731.1:c.17698G>A | XP_011510033.1:p.Asp5900Asn | |
| XM_017004819.1:c.43741G>A | XP_016860308.1:p.Asp14581Asn | |
| XM_017004820.1:c.39139G>A | XP_016860309.1:p.Asp13047Asn | |
| XM_017004821.1:c.39136G>A | XP_016860310.1:p.Asp13046Asn | |
| XM_017004822.1:c.36178G>A | XP_016860311.1:p.Asp12060Asn | |
| XM_017004823.1:c.17794G>A | XP_016860312.1:p.Asp5932Asn | |
| XM_024453094.1:c.39289G>A | XP_024308862.1:p.Asp13097Asn | |
| XM_024453095.1:c.39286G>A | XP_024308863.1:p.Asp13096Asn | |
| XM_024453096.1:c.38719G>A | XP_024308864.1:p.Asp12907Asn | |
| XM_024453097.1:c.36061G>A | XP_024308865.1:p.Asp12021Asn | |
| XM_024453098.1:c.35980G>A | XP_024308866.1:p.Asp11994Asn | |
| XM_024453099.1:c.17743G>A | XP_024308867.1:p.Asp5915Asn | |
| XM_024453100.1:c.7597G>A | XP_024308868.1:p.Asp2533Asn |