Linked Data
ClinVar Variation Id:
281006
dbSNP Id:
rs115166595
ExAC:
17:40695812 C / T
gnomAD v2:
17-40695812-C-T
gnomAD v3:
17-42543794-C-T
gnomAD v4:
17-42543794-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42543794C>T , CM000679.2:g.42543794C>T | GRCh38 |
| NC_000017.10:g.40695812C>T , CM000679.1:g.40695812C>T | GRCh37 |
| NC_000017.9:g.37949338C>T | NCBI36 |
| NG_011552.1:g.12862C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225927.7:c.1788C>T MANE Select | ENSP00000225927.1:p.Gly596= | |
| ENST00000225927.6:c.1788C>T | ENSP00000225927.1:p.Gly596= | |
| ENST00000591587.1:c.1126C>T | ENSP00000467836.1:n.1126C>T | |
| NM_000263.3:c.1788C>T | NP_000254.2:p.Gly596= | |
| XM_006721920.2:c.957C>T | XP_006721983.1:p.Gly319= | |
| XM_011524840.1:c.789C>T | XP_011523142.1:p.Gly263= | |
| XM_017024687.1:c.957C>T | XP_016880176.1:p.Gly319= | |
| XM_024450771.1:c.1845C>T | XP_024306539.1:p.Gly615= | |
| XM_024450772.1:c.789C>T | XP_024306540.1:p.Gly263= | |
| NM_000263.4:c.1788C>T MANE Select | NP_000254.2:p.Gly596= |