Linked Data
dbSNP Id:
rs746148215
ExAC:
14:50666531 T / C
gnomAD v3:
14-50199813-T-C
gnomAD v4:
14-50199813-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50199813T>C , CM000676.2:g.50199813T>C | GRCh38 |
| NC_000014.8:g.50666531T>C , CM000676.1:g.50666531T>C | GRCh37 |
| NC_000014.7:g.49736281T>C | NCBI36 |
| NG_051073.1:g.36881A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.388A>G MANE Select | ENSP00000216373.5:p.Ile130Val | |
| ENST00000216373.9:c.388A>G | ENSP00000216373.5:p.Ile130Val | |
| ENST00000543680.5:c.388A>G | ENSP00000445328.1:p.Ile130Val | |
| ENST00000555666.1:n.567A>G | ||
| ENST00000556469.5:n.359A>G | ||
| NM_006939.2:c.388A>G | NP_008870.2:p.Ile130Val | |
| XM_005268021.1:c.208A>G | XP_005268078.1:p.Ile70Val | |
| XM_011537103.1:c.349A>G | XP_011535405.1:p.Ile117Val | |
| XM_011537104.1:c.388A>G | XP_011535406.1:p.Ile130Val | |
| XR_943842.1:n.1039+15941T>C | ||
| XR_943843.1:n.1039+15941T>C | ||
| NM_006939.3:c.388A>G | NP_008870.2:p.Ile130Val | |
| NM_006939.4:c.388A>G MANE Select | NP_008870.2:p.Ile130Val |