Linked Data
ClinVar Variation Id:
314284
dbSNP Id:
rs61505039
ExAC:
14:74976452 C / T
gnomAD v2:
14-74976452-C-T
gnomAD v3:
14-74509749-C-T
gnomAD v4:
14-74509749-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74509749C>T , CM000676.2:g.74509749C>T | GRCh38 |
| NC_000014.8:g.74976452C>T , CM000676.1:g.74976452C>T | GRCh37 |
| NC_000014.7:g.74046205C>T | NCBI36 |
| NG_021486.1:g.107583G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261978.9:c.3262G>A MANE Select | ENSP00000261978.4:p.Gly1088Ser | |
| ENST00000261978.8:c.3262G>A | ENSP00000261978.4:p.Gly1088Ser | |
| ENST00000553939.5:c.3262G>A | ENSP00000452110.1:p.Gly1088Ser | |
| ENST00000556206.1:c.59G>A | ||
| ENST00000556690.5:c.3262G>A | ENSP00000451477.1:p.Gly1088Ser | |
| NM_000428.2:c.3262G>A | NP_000419.1:p.Gly1088Ser | |
| XM_011536765.1:c.2881G>A | XP_011535067.1:p.Gly961Ser | |
| XM_011536766.1:c.2803G>A | XP_011535068.1:p.Gly935Ser | |
| XM_011536767.1:c.2779G>A | XP_011535069.1:p.Gly927Ser | |
| XM_011536765.2:c.2881G>A | XP_011535067.1:p.Gly961Ser | |
| NM_000428.3:c.3262G>A MANE Select | NP_000419.1:p.Gly1088Ser |