Linked Data
ClinVar Variation Id:
2336124
ClinVar RCV Id:
RCV002912349
dbSNP Id:
rs1428545057
gnomAD v2:
19-7527061-C-G
gnomAD v4:
19-7462175-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7462175C>G , CM000681.2:g.7462175C>G | GRCh38 |
| NC_000019.9:g.7527061C>G , CM000681.1:g.7527061C>G | GRCh37 |
| NC_000019.8:g.7433061C>G | NCBI36 |
| NG_047135.1:g.118265C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319670.14:c.1438C>G | ENSP00000319200.8:p.Leu480Val | |
| ENST00000359920.11:c.1750C>G | ENSP00000352995.5:p.Leu584Val | |
| ENST00000594665.2:c.1438C>G | ENSP00000470729.2:p.Leu480Val | |
| ENST00000617428.4:c.1438C>G | ENSP00000482647.4:p.Leu480Val | |
| ENST00000668164.2:c.2476C>G MANE Select | ENSP00000499655.2:p.Leu826Val | |
| ENST00000319670.13:c.1438C>G | ENSP00000319200.7:p.Leu480Val | |
| ENST00000359920.10:c.1912C>G | ENSP00000352995.4:p.Leu638Val | |
| ENST00000594665.1:c.845C>G | ||
| ENST00000617428.2:c.1712C>G | ||
| NM_001130955.1:c.1912C>G | NP_001124427.1:p.Leu638Val | |
| NM_015318.3:c.1438C>G | NP_056133.2:p.Leu480Val | |
| XM_005272464.3:c.2671C>G | XP_005272521.1:p.Leu891Val | |
| XM_006722705.2:c.2476C>G | XP_006722768.1:p.Leu826Val | |
| XM_006722706.2:c.2476C>G | XP_006722769.1:p.Leu826Val | |
| XM_006722708.2:c.1438C>G | XP_006722771.1:p.Leu480Val | |
| XM_006722709.2:c.1438C>G | XP_006722772.1:p.Leu480Val | |
| XM_011527835.1:c.2671C>G | XP_011526137.1:p.Leu891Val | |
| XM_011527836.1:c.2671C>G | XP_011526138.1:p.Leu891Val | |
| XM_011527837.1:c.2671C>G | XP_011526139.1:p.Leu891Val | |
| XM_011527838.1:c.2476C>G | XP_011526140.1:p.Leu826Val | |
| XM_011527839.1:c.2428C>G | XP_011526141.1:p.Leu810Val | |
| XM_011527840.1:c.1438C>G | XP_011526142.1:p.Leu480Val | |
| XM_011527841.1:c.2671C>G | XP_011526143.1:p.Leu891Val | |
| XM_005272464.4:c.2671C>G | XP_005272521.1:p.Leu891Val | |
| XM_006722705.3:c.2476C>G | XP_006722768.1:p.Leu826Val | |
| XM_006722706.3:c.2476C>G | XP_006722769.1:p.Leu826Val | |
| XM_011527835.2:c.2671C>G | XP_011526137.1:p.Leu891Val | |
| XM_011527836.2:c.2671C>G | XP_011526138.1:p.Leu891Val | |
| XM_011527837.2:c.2671C>G | XP_011526139.1:p.Leu891Val | |
| XM_011527838.3:c.2476C>G | XP_011526140.1:p.Leu826Val | |
| XM_011527839.2:c.2428C>G | XP_011526141.1:p.Leu810Val | |
| XM_011527840.2:c.1438C>G | XP_011526142.1:p.Leu480Val | |
| XM_011527841.2:c.2671C>G | XP_011526143.1:p.Leu891Val | |
| NM_001130955.2:c.1750C>G | NP_001124427.2:p.Leu584Val | |
| NM_001367823.1:c.2476C>G MANE Select | NP_001354752.1:p.Leu826Val | |
| NM_001367824.1:c.1438C>G | NP_001354753.1:p.Leu480Val | |
| NM_015318.4:c.1438C>G | NP_056133.2:p.Leu480Val |