Linked Data
ClinVar Variation Id:
1346227
ClinVar RCV Id:
RCV002041370
dbSNP Id:
rs771589545
ExAC:
19:7527143 C / T
gnomAD v2:
19-7527143-C-T
gnomAD v4:
19-7462257-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7462257C>T , CM000681.2:g.7462257C>T | GRCh38 |
| NC_000019.9:g.7527143C>T , CM000681.1:g.7527143C>T | GRCh37 |
| NC_000019.8:g.7433143C>T | NCBI36 |
| NG_047135.1:g.118347C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319670.14:c.1520C>T | ENSP00000319200.8:p.Pro507Leu | |
| ENST00000359920.11:c.1832C>T | ENSP00000352995.5:p.Pro611Leu | |
| ENST00000594665.2:c.1520C>T | ENSP00000470729.2:p.Pro507Leu | |
| ENST00000617428.4:c.1520C>T | ENSP00000482647.4:p.Pro507Leu | |
| ENST00000668164.2:c.2558C>T MANE Select | ENSP00000499655.2:p.Pro853Leu | |
| ENST00000319670.13:c.1520C>T | ENSP00000319200.7:p.Pro507Leu | |
| ENST00000359920.10:c.1994C>T | ENSP00000352995.4:p.Pro665Leu | |
| ENST00000594665.1:c.927C>T | ||
| ENST00000617428.2:c.1794C>T | ||
| NM_001130955.1:c.1994C>T | NP_001124427.1:p.Pro665Leu | |
| NM_015318.3:c.1520C>T | NP_056133.2:p.Pro507Leu | |
| XM_005272464.3:c.2753C>T | XP_005272521.1:p.Pro918Leu | |
| XM_006722705.2:c.2558C>T | XP_006722768.1:p.Pro853Leu | |
| XM_006722706.2:c.2558C>T | XP_006722769.1:p.Pro853Leu | |
| XM_006722708.2:c.1520C>T | XP_006722771.1:p.Pro507Leu | |
| XM_006722709.2:c.1520C>T | XP_006722772.1:p.Pro507Leu | |
| XM_011527835.1:c.2753C>T | XP_011526137.1:p.Pro918Leu | |
| XM_011527836.1:c.2753C>T | XP_011526138.1:p.Pro918Leu | |
| XM_011527837.1:c.2753C>T | XP_011526139.1:p.Pro918Leu | |
| XM_011527838.1:c.2558C>T | XP_011526140.1:p.Pro853Leu | |
| XM_011527839.1:c.2510C>T | XP_011526141.1:p.Pro837Leu | |
| XM_011527840.1:c.1520C>T | XP_011526142.1:p.Pro507Leu | |
| XM_011527841.1:c.2753C>T | XP_011526143.1:p.Pro918Leu | |
| XM_005272464.4:c.2753C>T | XP_005272521.1:p.Pro918Leu | |
| XM_006722705.3:c.2558C>T | XP_006722768.1:p.Pro853Leu | |
| XM_006722706.3:c.2558C>T | XP_006722769.1:p.Pro853Leu | |
| XM_011527835.2:c.2753C>T | XP_011526137.1:p.Pro918Leu | |
| XM_011527836.2:c.2753C>T | XP_011526138.1:p.Pro918Leu | |
| XM_011527837.2:c.2753C>T | XP_011526139.1:p.Pro918Leu | |
| XM_011527838.3:c.2558C>T | XP_011526140.1:p.Pro853Leu | |
| XM_011527839.2:c.2510C>T | XP_011526141.1:p.Pro837Leu | |
| XM_011527840.2:c.1520C>T | XP_011526142.1:p.Pro507Leu | |
| XM_011527841.2:c.2753C>T | XP_011526143.1:p.Pro918Leu | |
| NM_001130955.2:c.1832C>T | NP_001124427.2:p.Pro611Leu | |
| NM_001367823.1:c.2558C>T MANE Select | NP_001354752.1:p.Pro853Leu | |
| NM_001367824.1:c.1520C>T | NP_001354753.1:p.Pro507Leu | |
| NM_015318.4:c.1520C>T | NP_056133.2:p.Pro507Leu |