Linked Data
ClinVar Variation Id:
2632200
ClinVar RCV Id:
RCV003416685
dbSNP Id:
rs749989076
ExAC:
17:41150834 G / T
gnomAD v2:
17-41150834-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42998817G>T , CM000679.2:g.42998817G>T | GRCh38 |
| NC_000017.10:g.41150834G>T , CM000679.1:g.41150834G>T | GRCh37 |
| NC_000017.9:g.38404360G>T | NCBI36 |
| NG_053099.1:g.5545G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253788.12:c.67G>T MANE Select | ENSP00000253788.5:p.Ala23Ser | |
| ENST00000589913.6:c.67G>T | ENSP00000464813.1:p.Ala23Ser | |
| ENST00000590864.2:c.67G>T | ENSP00000467939.2:p.Ala23Ser | |
| ENST00000253788.9:c.67G>T | ENSP00000253788.4:p.Ala23Ser | |
| ENST00000586277.5:c.9G>T | ||
| ENST00000587478.1:n.122G>T | ||
| ENST00000588830.1:c.67G>T | ENSP00000468468.1:p.Ala23Ser | |
| ENST00000589037.5:c.67G>T | ENSP00000467587.1:p.Ala23Ser | |
| ENST00000589913.5:c.67G>T | ENSP00000464813.1:p.Ala23Ser | |
| ENST00000593262.1:n.399G>T | ||
| NM_000988.3:c.67G>T | NP_000979.1:p.Ala23Ser | |
| NM_000988.5:c.67G>T MANE Select | NP_000979.1:p.Ala23Ser | |
| NM_001349921.1:c.67G>T | NP_001336850.1:p.Ala23Ser | |
| NM_001349922.1:c.67G>T | NP_001336851.1:p.Ala23Ser | |
| NR_146327.1:n.150G>T | ||
| NM_001349921.2:c.67G>T | NP_001336850.1:p.Ala23Ser | |
| NM_001349922.2:c.67G>T | NP_001336851.1:p.Ala23Ser | |
| NR_146327.2:n.122G>T |