Linked Data
ClinVar Variation Id:
487668
dbSNP Id:
rs193077277
ExAC:
16:46716039 C / T
gnomAD v2:
16-46716039-C-T
gnomAD v3:
16-46682127-C-T
gnomAD v4:
16-46682127-C-T
PubMed:
PMID:28796472
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.46682127C>T , CM000678.2:g.46682127C>T | GRCh38 |
| NC_000016.9:g.46716039C>T , CM000678.1:g.46716039C>T | GRCh37 |
| NC_000016.8:g.45273540C>T | NCBI36 |
| NG_029970.1:g.12106G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299138.12:c.151G>A MANE Select | ENSP00000299138.7:p.Gly51Ser | |
| ENST00000647959.1:c.*214G>A | ENSP00000497702.1:n.*214G>A | |
| ENST00000299138.11:c.151G>A | ENSP00000299138.7:p.Gly51Ser | |
| ENST00000561713.1:c.*214G>A | ENSP00000461423.1:n.*214G>A | |
| ENST00000568191.1:n.149G>A | ||
| ENST00000568612.5:c.*214G>A | ENSP00000461469.1:n.*214G>A | |
| ENST00000568784.6:c.*821G>A | ENSP00000456274.2:n.*821G>A | |
| ENST00000569950.1:n.284-607G>A | ||
| NM_018206.4:c.151G>A | NP_060676.2:p.Gly51Ser | |
| XM_005256045.2:c.-22-607G>A | XP_005256102.1:n.-22-607G>A | |
| XM_011523227.1:c.64G>A | XP_011521529.1:p.Gly22Ser | |
| NM_018206.5:c.151G>A | NP_060676.2:p.Gly51Ser | |
| XM_005256045.3:c.-22-607G>A | XP_005256102.1:n.-22-607G>A | |
| XM_011523227.3:c.64G>A | XP_011521529.1:p.Gly22Ser | |
| NM_018206.6:c.151G>A MANE Select | NP_060676.2:p.Gly51Ser |