Linked Data
ClinVar Variation Id:
507826
dbSNP Id:
rs772264111
ExAC:
14:50666535 T / C
gnomAD v3:
14-50199817-T-C
gnomAD v4:
14-50199817-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50199817T>C , CM000676.2:g.50199817T>C | GRCh38 |
| NC_000014.8:g.50666535T>C , CM000676.1:g.50666535T>C | GRCh37 |
| NC_000014.7:g.49736285T>C | NCBI36 |
| NG_051073.1:g.36877A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216373.10:c.384A>G MANE Select | ENSP00000216373.5:p.Leu128= | |
| ENST00000216373.9:c.384A>G | ENSP00000216373.5:p.Leu128= | |
| ENST00000543680.5:c.384A>G | ENSP00000445328.1:p.Leu128= | |
| ENST00000555666.1:n.563A>G | ||
| ENST00000556469.5:n.355A>G | ||
| NM_006939.2:c.384A>G | NP_008870.2:p.Leu128= | |
| XM_005268021.1:c.204A>G | XP_005268078.1:p.Leu68= | |
| XM_011537103.1:c.345A>G | XP_011535405.1:p.Leu115= | |
| XM_011537104.1:c.384A>G | XP_011535406.1:p.Leu128= | |
| XR_943842.1:n.1039+15945T>C | ||
| XR_943843.1:n.1039+15945T>C | ||
| NM_006939.3:c.384A>G | NP_008870.2:p.Leu128= | |
| NM_006939.4:c.384A>G MANE Select | NP_008870.2:p.Leu128= |