Linked Data
ClinVar Variation Id:
502137
dbSNP Id:
rs760535753
ExAC:
2:45169411 C / T
gnomAD v2:
2-45169411-C-T
gnomAD v3:
2-44942272-C-T
gnomAD v4:
2-44942272-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44942272C>T , CM000664.2:g.44942272C>T | GRCh38 |
| NC_000002.11:g.45169411C>T , CM000664.1:g.45169411C>T | GRCh37 |
| NC_000002.10:g.45022915C>T | NCBI36 |
| NG_016222.1:g.5375C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260653.5:c.168C>T MANE Select | ENSP00000260653.3:p.Gly56= | |
| ENST00000260653.4:c.168C>T | ENSP00000260653.3:p.Gly56= | |
| NM_005413.3:c.168C>T | NP_005404.1:p.Gly56= | |
| XM_011533042.1:c.168C>T | XP_011531344.1:p.Gly56= | |
| NM_005413.4:c.168C>T MANE Select | NP_005404.1:p.Gly56= |