Linked Data
dbSNP Id:
rs1284912203
gnomAD v2:
1-1471062-G-T
gnomAD v3:
1-1535682-G-T
gnomAD v4:
1-1535682-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535682G>T , CM000663.2:g.1535682G>T | GRCh38 |
| NC_000001.10:g.1471062G>T , CM000663.1:g.1471062G>T | GRCh37 |
| NC_000001.9:g.1460925G>T | NCBI36 |
| NG_041807.1:g.9679C>A | |
| NG_053035.1:g.28540G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.280C>A MANE Select | ENSP00000368007.4:p.Leu94Met | |
| ENST00000378733.8:c.280C>A | ENSP00000368007.4:p.Leu94Met | |
| ENST00000425828.1:c.280C>A | ENSP00000400311.1:p.Leu94Met | |
| NM_001114748.1:c.280C>A | NP_001108220.1:p.Leu94Met | |
| NM_001114748.2:c.280C>A MANE Select | NP_001108220.1:p.Leu94Met |