Linked Data
ClinVar Variation Id:
1409338
ClinVar RCV Id:
RCV001939790
dbSNP Id:
rs1002478260
gnomAD v2:
11-62381065-G-A
gnomAD v3:
11-62613593-G-A
gnomAD v4:
11-62613593-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62613593G>A , CM000673.2:g.62613593G>A | GRCh38 |
| NC_000011.9:g.62381065G>A , CM000673.1:g.62381065G>A | GRCh37 |
| NC_000011.8:g.62137641G>A | NCBI36 |
| NG_009845.1:g.5853G>A | |
| NG_031863.1:g.13583C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278833.4:c.312G>A MANE Select | ENSP00000278833.3:p.Leu104= | |
| ENST00000278833.3:c.312G>A | ENSP00000278833.3:p.Leu104= | |
| ENST00000525801.1:c.-38-665G>A | ENSP00000433566.1:n.-38-665G>A | |
| ENST00000525947.1:c.-221G>A | ENSP00000432983.1:n.-221G>A | |
| ENST00000534093.5:c.-38-665G>A | ENSP00000432151.1:n.-38-665G>A | |
| NM_000327.3:c.312G>A | NP_000318.1:p.Leu104= | |
| NM_000327.4:c.312G>A MANE Select | NP_000318.2:p.Leu104= |