Linked Data
ClinVar Variation Id:
2195629
ClinVar RCV Id:
RCV002628819
dbSNP Id:
rs1886425451
gnomAD v4:
14-50199770-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50199770A>T , CM000676.2:g.50199770A>T | GRCh38 |
| NC_000014.8:g.50666488A>T , CM000676.1:g.50666488A>T | GRCh37 |
| NC_000014.7:g.49736238A>T | NCBI36 |
| NG_051073.1:g.36924T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.431T>A MANE Select | ENSP00000216373.5:p.Leu144Ter | |
| ENST00000216373.9:c.431T>A | ENSP00000216373.5:p.Leu144Ter | |
| ENST00000543680.5:c.431T>A | ENSP00000445328.1:p.Leu144Ter | |
| ENST00000555666.1:n.610T>A | ||
| ENST00000556469.5:n.402T>A | ||
| NM_006939.2:c.431T>A | NP_008870.2:p.Leu144Ter | |
| XM_005268021.1:c.251T>A | XP_005268078.1:p.Leu84Ter | |
| XM_011537103.1:c.392T>A | XP_011535405.1:p.Leu131Ter | |
| XM_011537104.1:c.431T>A | XP_011535406.1:p.Leu144Ter | |
| XR_943842.1:n.1039+15898A>T | ||
| XR_943843.1:n.1039+15898A>T | ||
| NM_006939.3:c.431T>A | NP_008870.2:p.Leu144Ter | |
| NM_006939.4:c.431T>A MANE Select | NP_008870.2:p.Leu144Ter |