Linked Data
ClinVar Variation Id:
139165
ClinVar RCV Id:
RCV000128114
RCV000648104
RCV002316414
RCV003445543
RCV003445545
RCV003445544
RCV003445546
RCV003445547
dbSNP Id:
rs143588685
ExAC:
1:43394654 G / A
gnomAD v2:
1-43394654-G-A
gnomAD v3:
1-42928983-G-A
gnomAD v4:
1-42928983-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42928983G>A , CM000663.2:g.42928983G>A | GRCh38 |
| NC_000001.10:g.43394654G>A , CM000663.1:g.43394654G>A | GRCh37 |
| NC_000001.9:g.43167241G>A | NCBI36 |
| NG_008232.1:g.35194C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.1023C>T MANE Select | ENSP00000416293.2:p.Leu341= | |
| ENST00000674545.1:n.517C>T | ||
| ENST00000674765.1:c.1023C>T | ENSP00000501811.1:p.Leu341= | |
| ENST00000675112.1:n.1324C>T | ||
| ENST00000676254.1:n.1472C>T | ||
| ENST00000426263.7:c.1023C>T | ENSP00000416293.2:p.Leu341= | |
| ENST00000475162.3:c.415+1643C>T | ||
| ENST00000630287.2:c.*338C>T | ENSP00000486694.1:n.*338C>T | |
| NM_006516.2:c.1023C>T | NP_006507.2:p.Leu341= | |
| NM_006516.3:c.1023C>T | NP_006507.2:p.Leu341= | |
| NM_006516.4:c.1023C>T MANE Select | NP_006507.2:p.Leu341= |