Linked Data
ClinVar Variation Id:
1352142
ClinVar RCV Id:
RCV002049399
dbSNP Id:
rs2148003708
gnomAD v4:
X-108696331-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108696331T>G , CM000685.2:g.108696331T>G | GRCh38 |
| NC_000023.10:g.107939561T>G , CM000685.1:g.107939561T>G | GRCh37 |
| NC_000023.9:g.107826217T>G | NCBI36 |
| NG_011977.1:g.261408T>G | |
| NG_011977.2:g.261408T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.5029T>G MANE Select | ENSP00000331902.7:p.Leu1677Val | |
| ENST00000361603.7:c.5011T>G | ENSP00000354505.2:p.Leu1671Val | |
| ENST00000510690.2:n.1523T>G | ||
| ENST00000644079.1:n.2717T>G | ||
| ENST00000328300.10:c.5029T>G | ENSP00000331902.6:p.Leu1677Val | |
| ENST00000361603.6:c.5011T>G | ENSP00000354505.2:p.Leu1671Val | |
| ENST00000504541.1:c.254T>G | ENSP00000424845.1:n.254T>G | |
| ENST00000515658.1:c.359T>G | ||
| NM_000495.4:c.5011T>G | NP_000486.1:p.Leu1671Val | |
| NM_033380.2:c.5029T>G | NP_203699.1:p.Leu1677Val | |
| XM_005262070.2:c.5020T>G | XP_005262127.1:p.Leu1674Val | |
| XM_006724616.2:c.5029T>G | XP_006724679.1:p.Leu1677Val | |
| XM_011530849.1:c.4705T>G | XP_011529151.1:p.Leu1569Val | |
| XM_011530851.1:c.2602T>G | XP_011529153.1:p.Leu868Val | |
| XM_011530849.2:c.5044T>G | XP_011529151.2:p.Leu1682Val | |
| XM_017029259.2:c.5035T>G | XP_016884748.1:p.Leu1679Val | |
| XM_017029260.1:c.5026T>G | XP_016884749.1:p.Leu1676Val | |
| XM_017029263.2:c.3364T>G | XP_016884752.1:p.Leu1122Val | |
| NM_000495.5:c.5011T>G | NP_000486.1:p.Leu1671Val | |
| NM_033380.3:c.5029T>G MANE Select | NP_203699.1:p.Leu1677Val |