Linked Data
ClinVar Variation Id:
467129
dbSNP Id:
rs762470432
ExAC:
2:179501435 C / T
gnomAD v2:
2-179501435-C-T
gnomAD v3:
2-178636708-C-T
gnomAD v4:
2-178636708-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178636708C>T , CM000664.2:g.178636708C>T | GRCh38 |
| NC_000002.11:g.179501435C>T , CM000664.1:g.179501435C>T | GRCh37 |
| NC_000002.10:g.179209680C>T | NCBI36 |
| NG_011618.3:g.199095G>A , LRG_391:g.199095G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.33315G>A | ENSP00000343764.6:p.Pro11105= | |
| ENST00000342175.11:c.14400G>A | ENSP00000340554.6:p.Pro4800= | |
| ENST00000359218.10:c.14199G>A | ENSP00000352154.5:p.Pro4733= | |
| ENST00000342175.10:c.14400G>A | ENSP00000340554.6:p.Pro4800= | |
| ENST00000342992.10:c.33315G>A | ENSP00000343764.6:p.Pro11105= | |
| ENST00000359218.9:c.14199G>A | ENSP00000352154.5:p.Pro4733= | |
| ENST00000460472.6:c.13824G>A | ENSP00000434586.1:p.Pro4608= | |
| ENST00000589042.5:c.41019G>A MANE Select | ENSP00000467141.1:p.Pro13673= | |
| ENST00000591111.5:c.36096G>A | ENSP00000465570.1:p.Pro12032= | |
| ENST00000615779.4:c.36096G>A | ENSP00000483597.1:p.Pro12032= | |
| NM_001256850.1:c.36096G>A | NP_001243779.1:p.Pro12032= | |
| NM_001267550.2:c.41019G>A MANE Select | NP_001254479.2:p.Pro13673= | |
| NM_003319.4:c.13824G>A | NP_003310.4:p.Pro4608= | |
| NM_133378.4:c.33315G>A | NP_596869.4:p.Pro11105= | |
| NM_133432.3:c.14199G>A | NP_597676.3:p.Pro4733= | |
| NM_133437.4:c.14400G>A | NP_597681.4:p.Pro4800= | |
| XM_011511729.1:c.40116G>A | XP_011510031.1:p.Pro13372= | |
| XM_011511730.1:c.14010G>A | XP_011510032.1:p.Pro4670= | |
| XM_011511731.1:c.13869G>A | XP_011510033.1:p.Pro4623= | |
| XM_017004819.1:c.39912G>A | XP_016860308.1:p.Pro13304= | |
| XM_017004820.1:c.35310G>A | XP_016860309.1:p.Pro11770= | |
| XM_017004821.1:c.35307G>A | XP_016860310.1:p.Pro11769= | |
| XM_017004822.1:c.32349G>A | XP_016860311.1:p.Pro10783= | |
| XM_017004823.1:c.13965G>A | XP_016860312.1:p.Pro4655= | |
| XM_024453094.1:c.35460G>A | XP_024308862.1:p.Pro11820= | |
| XM_024453095.1:c.35457G>A | XP_024308863.1:p.Pro11819= | |
| XM_024453096.1:c.34890G>A | XP_024308864.1:p.Pro11630= | |
| XM_024453097.1:c.32232G>A | XP_024308865.1:p.Pro10744= | |
| XM_024453098.1:c.32151G>A | XP_024308866.1:p.Pro10717= | |
| XM_024453099.1:c.13914G>A | XP_024308867.1:p.Pro4638= | |
| XM_024453100.1:c.3768G>A | XP_024308868.1:p.Pro1256= |