Linked Data
dbSNP Id:
rs775777617
ExAC:
14:50666537 G / C
gnomAD v2:
14-50666537-G-C
gnomAD v4:
14-50199819-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50199819G>C , CM000676.2:g.50199819G>C | GRCh38 |
| NC_000014.8:g.50666537G>C , CM000676.1:g.50666537G>C | GRCh37 |
| NC_000014.7:g.49736287G>C | NCBI36 |
| NG_051073.1:g.36875C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.382C>G MANE Select | ENSP00000216373.5:p.Leu128Val | |
| ENST00000216373.9:c.382C>G | ENSP00000216373.5:p.Leu128Val | |
| ENST00000543680.5:c.382C>G | ENSP00000445328.1:p.Leu128Val | |
| ENST00000555666.1:n.561C>G | ||
| ENST00000556469.5:n.353C>G | ||
| NM_006939.2:c.382C>G | NP_008870.2:p.Leu128Val | |
| XM_005268021.1:c.202C>G | XP_005268078.1:p.Leu68Val | |
| XM_011537103.1:c.343C>G | XP_011535405.1:p.Leu115Val | |
| XM_011537104.1:c.382C>G | XP_011535406.1:p.Leu128Val | |
| XR_943842.1:n.1039+15947G>C | ||
| XR_943843.1:n.1039+15947G>C | ||
| NM_006939.3:c.382C>G | NP_008870.2:p.Leu128Val | |
| NM_006939.4:c.382C>G MANE Select | NP_008870.2:p.Leu128Val |