Linked Data
dbSNP Id:
rs1654730438
gnomAD v4:
1-202128265-C-A
MyVariant Identifiers:
chr1:g.202097393C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202128265C>A , CM000663.2:g.202128265C>A | GRCh38 |
| NC_000001.10:g.202097393C>A , CM000663.1:g.202097393C>A | GRCh37 |
| NC_000001.9:g.200364016C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682422.1:n.736C>A | ||
| ENST00000682545.1:c.*161C>A | ENSP00000508402.1:n.*161C>A | |
| ENST00000682887.1:c.1556C>A | ENSP00000506946.1:n.1556C>A | |
| ENST00000683302.1:c.1086C>A | ENSP00000507885.1:p.Leu362= | |
| ENST00000683557.1:c.746C>A | ENSP00000508029.1:p.Ser249Tyr | |
| ENST00000367282.6:c.1155C>A MANE Select | ENSP00000356251.4:p.Leu385= | |
| ENST00000367282.5:c.1155C>A | ENSP00000356251.4:p.Leu385= | |
| NM_004767.3:c.1155C>A | NP_004758.3:p.Leu385= | |
| XM_011510158.1:c.594C>A | XP_011508460.1:p.Leu198= | |
| NM_004767.4:c.1155C>A | NP_004758.3:p.Leu385= | |
| XM_011510158.2:c.594C>A | XP_011508460.1:p.Leu198= | |
| NM_004767.5:c.1155C>A MANE Select | NP_004758.3:p.Leu385= |