Linked Data
ClinVar Variation Id:
304897
dbSNP Id:
rs758493823
ExAC:
11:46920155 G / A
gnomAD v2:
11-46920155-G-A
gnomAD v4:
11-46898604-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46898604G>A , CM000673.2:g.46898604G>A | GRCh38 |
| NC_000011.9:g.46920155G>A , CM000673.1:g.46920155G>A | GRCh37 |
| NC_000011.8:g.46876731G>A | NCBI36 |
| NG_021394.1:g.25019C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.750C>T MANE Select | ENSP00000367888.1:p.Cys250= | |
| ENST00000378623.5:c.750C>T | ENSP00000367888.1:p.Cys250= | |
| NM_002334.3:c.750C>T | NP_002325.2:p.Cys250= | |
| XM_011520102.1:c.963C>T | XP_011518404.1:p.Cys321= | |
| XM_017017734.1:c.750C>T | XP_016873223.1:p.Cys250= | |
| NM_002334.4:c.750C>T MANE Select | NP_002325.2:p.Cys250= |