Linked Data
ClinVar Variation Id:
467172
ClinVar RCV Id:
RCV000531429
dbSNP Id:
rs879113967
gnomAD v2:
2-179485079-G-A
gnomAD v4:
2-178620352-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178620352G>A , CM000664.2:g.178620352G>A | GRCh38 |
| NC_000002.11:g.179485079G>A , CM000664.1:g.179485079G>A | GRCh37 |
| NC_000002.10:g.179193324G>A | NCBI36 |
| NG_011618.3:g.215451C>T , LRG_391:g.215451C>T | |
| NG_051363.1:g.102526G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.38465C>T | ENSP00000343764.6:p.Pro12822Leu | |
| ENST00000342175.11:c.19550C>T | ENSP00000340554.6:p.Pro6517Leu | |
| ENST00000359218.10:c.19349C>T | ENSP00000352154.5:p.Pro6450Leu | |
| ENST00000342175.10:c.19550C>T | ENSP00000340554.6:p.Pro6517Leu | |
| ENST00000342992.10:c.38465C>T | ENSP00000343764.6:p.Pro12822Leu | |
| ENST00000359218.9:c.19349C>T | ENSP00000352154.5:p.Pro6450Leu | |
| ENST00000460472.6:c.18974C>T | ENSP00000434586.1:p.Pro6325Leu | |
| ENST00000589042.5:c.46169C>T MANE Select | ENSP00000467141.1:p.Pro15390Leu | |
| ENST00000591111.5:c.41246C>T | ENSP00000465570.1:p.Pro13749Leu | |
| ENST00000615779.4:c.41246C>T | ENSP00000483597.1:p.Pro13749Leu | |
| NM_001256850.1:c.41246C>T | NP_001243779.1:p.Pro13749Leu | |
| NM_001267550.2:c.46169C>T MANE Select | NP_001254479.2:p.Pro15390Leu | |
| NM_003319.4:c.18974C>T | NP_003310.4:p.Pro6325Leu | |
| NM_133378.4:c.38465C>T | NP_596869.4:p.Pro12822Leu | |
| NM_133432.3:c.19349C>T | NP_597676.3:p.Pro6450Leu | |
| NM_133437.4:c.19550C>T | NP_597681.4:p.Pro6517Leu | |
| XM_011511729.1:c.45266C>T | XP_011510031.1:p.Pro15089Leu | |
| XM_011511730.1:c.19160C>T | XP_011510032.1:p.Pro6387Leu | |
| XM_011511731.1:c.19019C>T | XP_011510033.1:p.Pro6340Leu | |
| XM_017004819.1:c.45062C>T | XP_016860308.1:p.Pro15021Leu | |
| XM_017004820.1:c.40460C>T | XP_016860309.1:p.Pro13487Leu | |
| XM_017004821.1:c.40457C>T | XP_016860310.1:p.Pro13486Leu | |
| XM_017004822.1:c.37499C>T | XP_016860311.1:p.Pro12500Leu | |
| XM_017004823.1:c.19115C>T | XP_016860312.1:p.Pro6372Leu | |
| XM_024453094.1:c.40610C>T | XP_024308862.1:p.Pro13537Leu | |
| XM_024453095.1:c.40607C>T | XP_024308863.1:p.Pro13536Leu | |
| XM_024453096.1:c.40040C>T | XP_024308864.1:p.Pro13347Leu | |
| XM_024453097.1:c.37382C>T | XP_024308865.1:p.Pro12461Leu | |
| XM_024453098.1:c.37301C>T | XP_024308866.1:p.Pro12434Leu | |
| XM_024453099.1:c.19064C>T | XP_024308867.1:p.Pro6355Leu | |
| XM_024453100.1:c.8918C>T | XP_024308868.1:p.Pro2973Leu |