Linked Data
ClinVar Variation Id:
427864
dbSNP Id:
rs1420672586
gnomAD v2:
1-68896965-C-A
gnomAD v3:
1-68431282-C-A
gnomAD v4:
1-68431282-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431282C>A , CM000663.2:g.68431282C>A | GRCh38 |
| NC_000001.10:g.68896965C>A , CM000663.1:g.68896965C>A | GRCh37 |
| NC_000001.9:g.68669553C>A | NCBI36 |
| NG_008472.1:g.23678G>T | |
| NG_008472.2:g.23678G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1338G>T MANE Select | ENSP00000262340.5:p.Arg446Ser | |
| ENST00000262340.5:c.1338G>T | ENSP00000262340.5:p.Arg446Ser | |
| NM_000329.2:c.1338G>T | NP_000320.1:p.Arg446Ser | |
| XM_017002027.1:c.1062G>T | XP_016857516.1:p.Arg354Ser | |
| NM_000329.3:c.1338G>T MANE Select | NP_000320.1:p.Arg446Ser |