Linked Data
ClinVar Variation Id:
46995
ClinVar RCV Id:
RCV000040265
RCV000304633
RCV000303308
RCV000347554
RCV000358217
RCV000406048
RCV000407706
RCV000727270
RCV001079806
RCV000770026
RCV004541156
dbSNP Id:
rs397517583
ExAC:
2:179485183 C / G
gnomAD v2:
2-179485183-C-G
gnomAD v3:
2-178620456-C-G
gnomAD v4:
2-178620456-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178620456C>G , CM000664.2:g.178620456C>G | GRCh38 |
| NC_000002.11:g.179485183C>G , CM000664.1:g.179485183C>G | GRCh37 |
| NC_000002.10:g.179193428C>G | NCBI36 |
| NG_011618.3:g.215347G>C , LRG_391:g.215347G>C | |
| NG_051363.1:g.102630C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.38361G>C | ENSP00000343764.6:p.Lys12787Asn | |
| ENST00000342175.11:c.19446G>C | ENSP00000340554.6:p.Lys6482Asn | |
| ENST00000359218.10:c.19245G>C | ENSP00000352154.5:p.Lys6415Asn | |
| ENST00000342175.10:c.19446G>C | ENSP00000340554.6:p.Lys6482Asn | |
| ENST00000342992.10:c.38361G>C | ENSP00000343764.6:p.Lys12787Asn | |
| ENST00000359218.9:c.19245G>C | ENSP00000352154.5:p.Lys6415Asn | |
| ENST00000460472.6:c.18870G>C | ENSP00000434586.1:p.Lys6290Asn | |
| ENST00000589042.5:c.46065G>C MANE Select | ENSP00000467141.1:p.Lys15355Asn | |
| ENST00000591111.5:c.41142G>C | ENSP00000465570.1:p.Lys13714Asn | |
| ENST00000615779.4:c.41142G>C | ENSP00000483597.1:p.Lys13714Asn | |
| NM_001256850.1:c.41142G>C | NP_001243779.1:p.Lys13714Asn | |
| NM_001267550.2:c.46065G>C MANE Select | NP_001254479.2:p.Lys15355Asn | |
| NM_003319.4:c.18870G>C | NP_003310.4:p.Lys6290Asn | |
| NM_133378.4:c.38361G>C | NP_596869.4:p.Lys12787Asn | |
| NM_133432.3:c.19245G>C | NP_597676.3:p.Lys6415Asn | |
| NM_133437.4:c.19446G>C | NP_597681.4:p.Lys6482Asn | |
| XM_011511729.1:c.45162G>C | XP_011510031.1:p.Lys15054Asn | |
| XM_011511730.1:c.19056G>C | XP_011510032.1:p.Lys6352Asn | |
| XM_011511731.1:c.18915G>C | XP_011510033.1:p.Lys6305Asn | |
| XM_017004819.1:c.44958G>C | XP_016860308.1:p.Lys14986Asn | |
| XM_017004820.1:c.40356G>C | XP_016860309.1:p.Lys13452Asn | |
| XM_017004821.1:c.40353G>C | XP_016860310.1:p.Lys13451Asn | |
| XM_017004822.1:c.37395G>C | XP_016860311.1:p.Lys12465Asn | |
| XM_017004823.1:c.19011G>C | XP_016860312.1:p.Lys6337Asn | |
| XM_024453094.1:c.40506G>C | XP_024308862.1:p.Lys13502Asn | |
| XM_024453095.1:c.40503G>C | XP_024308863.1:p.Lys13501Asn | |
| XM_024453096.1:c.39936G>C | XP_024308864.1:p.Lys13312Asn | |
| XM_024453097.1:c.37278G>C | XP_024308865.1:p.Lys12426Asn | |
| XM_024453098.1:c.37197G>C | XP_024308866.1:p.Lys12399Asn | |
| XM_024453099.1:c.18960G>C | XP_024308867.1:p.Lys6320Asn | |
| XM_024453100.1:c.8814G>C | XP_024308868.1:p.Lys2938Asn |