Linked Data
dbSNP Id:
rs753996905
ExAC:
20:3063696 C / A
gnomAD v2:
20-3063696-C-A
gnomAD v4:
20-3083050-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3083050C>A , CM000682.2:g.3083050C>A | GRCh38 |
| NC_000020.10:g.3063696C>A , CM000682.1:g.3063696C>A | GRCh37 |
| NC_000020.9:g.3011696C>A | NCBI36 |
| NG_008663.1:g.6675G>T , LRG_715:g.6675G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380293.3:c.249G>T MANE Select | ENSP00000369647.3:p.Ser83= | |
| NM_000490.4:c.249G>T , LRG_715t1:c.249G>T | NP_000481.2:p.Ser83= | |
| XM_011529267.1:c.249G>T | XP_011527569.1:p.Ser83= | |
| XM_011529267.2:c.249G>T | XP_011527569.1:p.Ser83= | |
| NM_000490.5:c.249G>T MANE Select | NP_000481.2:p.Ser83= |