Linked Data
ClinVar Variation Id:
2891120
ClinVar RCV Id:
RCV003722815
dbSNP Id:
rs371122759
gnomAD v2:
16-16248832-C-A
gnomAD v3:
16-16154975-C-A
gnomAD v4:
16-16154975-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16154975C>A , CM000678.2:g.16154975C>A | GRCh38 |
| NC_000016.9:g.16248832C>A , CM000678.1:g.16248832C>A | GRCh37 |
| NC_000016.8:g.16156333C>A | NCBI36 |
| NG_007558.2:g.73497G>T | |
| NG_007558.3:g.73643G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576204.6:n.802G>T | ||
| ENST00000622290.5:c.*111G>T | ENSP00000483331.2:n.*111G>T | |
| ENST00000205557.12:c.3939G>T MANE Select | ENSP00000205557.7:p.Leu1313= | |
| ENST00000640696.1:c.753G>T | ENSP00000492197.1:p.Leu251= | |
| ENST00000205557.11:c.3939G>T | ENSP00000205557.7:p.Leu1313= | |
| ENST00000456970.6:c.3564G>T | ENSP00000405002.2:n.3564G>T | |
| ENST00000576204.5:n.802G>T | ||
| ENST00000622290.4:c.*1148G>T | ENSP00000483331.1:n.*1148G>T | |
| NM_001171.5:c.3939G>T | NP_001162.4:p.Leu1313= | |
| XM_011522479.1:c.3906G>T | XP_011520781.1:p.Leu1302= | |
| XM_011522480.1:c.3597G>T | XP_011520782.1:p.Leu1199= | |
| XM_011522481.1:c.3597G>T | XP_011520783.1:p.Leu1199= | |
| XR_932836.1:n.4237G>T | ||
| XR_932837.1:n.3975G>T | ||
| XR_932838.1:n.4038G>T | ||
| XR_933134.1:n.539-4806C>A | ||
| NM_001351800.1:c.3597G>T | NP_001338729.1:p.Leu1199= | |
| NR_147784.1:n.3601G>T | ||
| XM_011522479.2:c.3906G>T | XP_011520781.1:p.Leu1302= | |
| XM_011522481.3:c.3597G>T | XP_011520783.1:p.Leu1199= | |
| XM_017023212.1:c.3771G>T | XP_016878701.1:p.Leu1257= | |
| XM_024450261.1:c.3975G>T | XP_024306029.1:p.Leu1325= | |
| XR_932836.2:n.4183G>T | ||
| XR_932837.3:n.3920G>T | ||
| XR_932838.3:n.3983G>T | ||
| NM_001171.6:c.3939G>T MANE Select | NP_001162.5:p.Leu1313= |