Linked Data
ClinVar Variation Id:
1897593
ClinVar RCV Id:
RCV002572470
dbSNP Id:
rs748039721
ExAC:
11:62380890 T / G
gnomAD v2:
11-62380890-T-G
gnomAD v3:
11-62613418-T-G
gnomAD v4:
11-62613418-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62613418T>G , CM000673.2:g.62613418T>G | GRCh38 |
| NC_000011.9:g.62380890T>G , CM000673.1:g.62380890T>G | GRCh37 |
| NC_000011.8:g.62137466T>G | NCBI36 |
| NG_009845.1:g.5678T>G | |
| NG_031863.1:g.13758A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278833.4:c.137T>G MANE Select | ENSP00000278833.3:p.Leu46Arg | |
| ENST00000278833.3:c.137T>G | ENSP00000278833.3:p.Leu46Arg | |
| ENST00000525801.1:c.-38-840T>G | ENSP00000433566.1:n.-38-840T>G | |
| ENST00000534093.5:c.-38-840T>G | ENSP00000432151.1:n.-38-840T>G | |
| NM_000327.3:c.137T>G | NP_000318.1:p.Leu46Arg | |
| NM_000327.4:c.137T>G MANE Select | NP_000318.2:p.Leu46Arg |