Linked Data
ClinVar Variation Id:
340010
dbSNP Id:
rs148947402
ExAC:
21:43161028 G / A
gnomAD v2:
21-43161028-G-A
gnomAD v3:
21-41740868-G-A
gnomAD v4:
21-41740868-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41740868G>A , CM000683.2:g.41740868G>A | GRCh38 |
| NC_000021.8:g.43161028G>A , CM000683.1:g.43161028G>A | GRCh37 |
| NC_000021.7:g.42034097G>A | NCBI36 |
| NG_032113.1:g.31222C>T | |
| NG_032113.2:g.31222C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332512.8:c.2325C>T MANE Select | ENSP00000332454.3:p.Ala775= | |
| ENST00000332512.7:c.2325C>T | ENSP00000332454.3:p.Ala775= | |
| ENST00000352483.3:c.2469C>T | ENSP00000330161.2:p.Ala823= | |
| NM_020639.2:c.2325C>T | NP_065690.2:p.Ala775= | |
| NM_020639.3:c.2325C>T MANE Select | NP_065690.2:p.Ala775= |