Linked Data
dbSNP Id:
rs1447803912
gnomAD v2:
1-1471074-G-C
gnomAD v3:
1-1535694-G-C
gnomAD v4:
1-1535694-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535694G>C , CM000663.2:g.1535694G>C | GRCh38 |
| NC_000001.10:g.1471074G>C , CM000663.1:g.1471074G>C | GRCh37 |
| NC_000001.9:g.1460937G>C | NCBI36 |
| NG_041807.1:g.9667C>G | |
| NG_053035.1:g.28552G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.268C>G MANE Select | ENSP00000368007.4:p.Leu90Val | |
| ENST00000378733.8:c.268C>G | ENSP00000368007.4:p.Leu90Val | |
| ENST00000425828.1:c.268C>G | ENSP00000400311.1:p.Leu90Val | |
| NM_001114748.1:c.268C>G | NP_001108220.1:p.Leu90Val | |
| NM_001114748.2:c.268C>G MANE Select | NP_001108220.1:p.Leu90Val |