Linked Data
ClinVar Variation Id:
46988
ClinVar RCV Id:
RCV000040258
RCV000118755
RCV000242768
RCV000770031
RCV001133295
RCV001133296
RCV001133292
RCV001133294
RCV001084207
RCV001133293
RCV004534897
dbSNP Id:
rs72677225
ExAC:
2:179486037 C / A
gnomAD v2:
2-179486037-C-A
gnomAD v3:
2-178621310-C-A
gnomAD v4:
2-178621310-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178621310C>A , CM000664.2:g.178621310C>A | GRCh38 |
| NC_000002.11:g.179486037C>A , CM000664.1:g.179486037C>A | GRCh37 |
| NC_000002.10:g.179194282C>A | NCBI36 |
| NG_011618.3:g.214493G>T , LRG_391:g.214493G>T | |
| NG_051363.1:g.103484C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.37704G>T | ENSP00000343764.6:p.Lys12568Asn | |
| ENST00000342175.11:c.18789G>T | ENSP00000340554.6:p.Lys6263Asn | |
| ENST00000359218.10:c.18588G>T | ENSP00000352154.5:p.Lys6196Asn | |
| ENST00000342175.10:c.18789G>T | ENSP00000340554.6:p.Lys6263Asn | |
| ENST00000342992.10:c.37704G>T | ENSP00000343764.6:p.Lys12568Asn | |
| ENST00000359218.9:c.18588G>T | ENSP00000352154.5:p.Lys6196Asn | |
| ENST00000460472.6:c.18213G>T | ENSP00000434586.1:p.Lys6071Asn | |
| ENST00000589042.5:c.45408G>T MANE Select | ENSP00000467141.1:p.Lys15136Asn | |
| ENST00000591111.5:c.40485G>T | ENSP00000465570.1:p.Lys13495Asn | |
| ENST00000615779.4:c.40485G>T | ENSP00000483597.1:p.Lys13495Asn | |
| NM_001256850.1:c.40485G>T | NP_001243779.1:p.Lys13495Asn | |
| NM_001267550.2:c.45408G>T MANE Select | NP_001254479.2:p.Lys15136Asn | |
| NM_003319.4:c.18213G>T | NP_003310.4:p.Lys6071Asn | |
| NM_133378.4:c.37704G>T | NP_596869.4:p.Lys12568Asn | |
| NM_133432.3:c.18588G>T | NP_597676.3:p.Lys6196Asn | |
| NM_133437.4:c.18789G>T | NP_597681.4:p.Lys6263Asn | |
| XM_011511729.1:c.44505G>T | XP_011510031.1:p.Lys14835Asn | |
| XM_011511730.1:c.18399G>T | XP_011510032.1:p.Lys6133Asn | |
| XM_011511731.1:c.18258G>T | XP_011510033.1:p.Lys6086Asn | |
| XM_017004819.1:c.44301G>T | XP_016860308.1:p.Lys14767Asn | |
| XM_017004820.1:c.39699G>T | XP_016860309.1:p.Lys13233Asn | |
| XM_017004821.1:c.39696G>T | XP_016860310.1:p.Lys13232Asn | |
| XM_017004822.1:c.36738G>T | XP_016860311.1:p.Lys12246Asn | |
| XM_017004823.1:c.18354G>T | XP_016860312.1:p.Lys6118Asn | |
| XM_024453094.1:c.39849G>T | XP_024308862.1:p.Lys13283Asn | |
| XM_024453095.1:c.39846G>T | XP_024308863.1:p.Lys13282Asn | |
| XM_024453096.1:c.39279G>T | XP_024308864.1:p.Lys13093Asn | |
| XM_024453097.1:c.36621G>T | XP_024308865.1:p.Lys12207Asn | |
| XM_024453098.1:c.36540G>T | XP_024308866.1:p.Lys12180Asn | |
| XM_024453099.1:c.18303G>T | XP_024308867.1:p.Lys6101Asn | |
| XM_024453100.1:c.8157G>T | XP_024308868.1:p.Lys2719Asn |