Linked Data
dbSNP Id:
rs2101528097
gnomAD v4:
1-100539794-G-A
MyVariant Identifiers:
chr1:g.101005350G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100539794G>A , CM000663.2:g.100539794G>A | GRCh38 |
| NC_000001.10:g.101005350G>A , CM000663.1:g.101005350G>A | GRCh37 |
| NC_000001.9:g.100777938G>A | NCBI36 |
| NG_053134.1:g.6623G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315033.5:c.828G>A MANE Select | ENSP00000314223.4:p.Arg276= | |
| ENST00000315033.4:c.828G>A | ENSP00000314223.4:p.Arg276= | |
| NM_022049.2:c.828G>A | NP_071332.2:p.Arg276= | |
| NM_022049.3:c.828G>A MANE Select | NP_071332.2:p.Arg276= |