Linked Data
ClinVar Variation Id:
178220
ClinVar RCV Id:
RCV000154955
RCV000252544
RCV000467649
RCV001135957
RCV001134532
RCV001135955
RCV001135956
RCV001135958
RCV001697149
RCV001798508
dbSNP Id:
rs184713215
ExAC:
2:179501481 T / C
gnomAD v2:
2-179501481-T-C
gnomAD v3:
2-178636754-T-C
gnomAD v4:
2-178636754-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178636754T>C , CM000664.2:g.178636754T>C | GRCh38 |
| NC_000002.11:g.179501481T>C , CM000664.1:g.179501481T>C | GRCh37 |
| NC_000002.10:g.179209726T>C | NCBI36 |
| NG_011618.3:g.199049A>G , LRG_391:g.199049A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.33269A>G | ENSP00000343764.6:p.Lys11090Arg | |
| ENST00000342175.11:c.14354A>G | ENSP00000340554.6:p.Lys4785Arg | |
| ENST00000359218.10:c.14153A>G | ENSP00000352154.5:p.Lys4718Arg | |
| ENST00000342175.10:c.14354A>G | ENSP00000340554.6:p.Lys4785Arg | |
| ENST00000342992.10:c.33269A>G | ENSP00000343764.6:p.Lys11090Arg | |
| ENST00000359218.9:c.14153A>G | ENSP00000352154.5:p.Lys4718Arg | |
| ENST00000414766.5:c.2885A>G | ENSP00000401501.1:p.Lys962Arg | |
| ENST00000460472.6:c.13778A>G | ENSP00000434586.1:p.Lys4593Arg | |
| ENST00000589042.5:c.40973A>G MANE Select | ENSP00000467141.1:p.Lys13658Arg | |
| ENST00000591111.5:c.36050A>G | ENSP00000465570.1:p.Lys12017Arg | |
| ENST00000615779.4:c.36050A>G | ENSP00000483597.1:p.Lys12017Arg | |
| NM_001256850.1:c.36050A>G | NP_001243779.1:p.Lys12017Arg | |
| NM_001267550.2:c.40973A>G MANE Select | NP_001254479.2:p.Lys13658Arg | |
| NM_003319.4:c.13778A>G | NP_003310.4:p.Lys4593Arg | |
| NM_133378.4:c.33269A>G | NP_596869.4:p.Lys11090Arg | |
| NM_133432.3:c.14153A>G | NP_597676.3:p.Lys4718Arg | |
| NM_133437.4:c.14354A>G | NP_597681.4:p.Lys4785Arg | |
| XM_011511729.1:c.40070A>G | XP_011510031.1:p.Lys13357Arg | |
| XM_011511730.1:c.13964A>G | XP_011510032.1:p.Lys4655Arg | |
| XM_011511731.1:c.13823A>G | XP_011510033.1:p.Lys4608Arg | |
| XM_017004819.1:c.39866A>G | XP_016860308.1:p.Lys13289Arg | |
| XM_017004820.1:c.35264A>G | XP_016860309.1:p.Lys11755Arg | |
| XM_017004821.1:c.35261A>G | XP_016860310.1:p.Lys11754Arg | |
| XM_017004822.1:c.32303A>G | XP_016860311.1:p.Lys10768Arg | |
| XM_017004823.1:c.13919A>G | XP_016860312.1:p.Lys4640Arg | |
| XM_024453094.1:c.35414A>G | XP_024308862.1:p.Lys11805Arg | |
| XM_024453095.1:c.35411A>G | XP_024308863.1:p.Lys11804Arg | |
| XM_024453096.1:c.34844A>G | XP_024308864.1:p.Lys11615Arg | |
| XM_024453097.1:c.32186A>G | XP_024308865.1:p.Lys10729Arg | |
| XM_024453098.1:c.32105A>G | XP_024308866.1:p.Lys10702Arg | |
| XM_024453099.1:c.13868A>G | XP_024308867.1:p.Lys4623Arg | |
| XM_024453100.1:c.3722A>G | XP_024308868.1:p.Lys1241Arg |