Linked Data
ClinVar Variation Id:
281776
dbSNP Id:
rs144974139
ExAC:
11:46920492 G / A
gnomAD v2:
11-46920492-G-A
gnomAD v3:
11-46898941-G-A
gnomAD v4:
11-46898941-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46898941G>A , CM000673.2:g.46898941G>A | GRCh38 |
| NC_000011.9:g.46920492G>A , CM000673.1:g.46920492G>A | GRCh37 |
| NC_000011.8:g.46877068G>A | NCBI36 |
| NG_021394.1:g.24682C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.639C>T MANE Select | ENSP00000367888.1:p.Asp213= | |
| ENST00000378623.5:c.639C>T | ENSP00000367888.1:p.Asp213= | |
| NM_002334.3:c.639C>T | NP_002325.2:p.Asp213= | |
| XM_011520102.1:c.852C>T | XP_011518404.1:p.Asp284= | |
| XM_017017734.1:c.639C>T | XP_016873223.1:p.Asp213= | |
| NM_002334.4:c.639C>T MANE Select | NP_002325.2:p.Asp213= |