Linked Data
ClinVar Variation Id:
374024
dbSNP Id:
rs377274761
ExAC:
14:88434737 C / T
gnomAD v2:
14-88434737-C-T
gnomAD v3:
14-87968393-C-T
gnomAD v4:
14-87968393-C-T
PubMed:
PMID:8940268
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87968393C>T , CM000676.2:g.87968393C>T | GRCh38 |
| NC_000014.8:g.88434737C>T , CM000676.1:g.88434737C>T | GRCh37 |
| NC_000014.7:g.87504490C>T | NCBI36 |
| NG_011853.2:g.30171G>A | |
| NG_011853.3:g.30171G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261304.7:c.850G>A MANE Select | ENSP00000261304.2:p.Gly284Ser | |
| ENST00000261304.6:c.850G>A | ENSP00000261304.2:p.Gly284Ser | |
| ENST00000393568.8:c.781G>A | ENSP00000377198.4:p.Gly261Ser | |
| ENST00000393569.6:c.772G>A | ENSP00000377199.2:p.Gly258Ser | |
| ENST00000474294.6:n.840G>A | ||
| ENST00000477716.3:n.605G>A | ||
| ENST00000544807.6:c.682G>A | ENSP00000437513.2:p.Gly228Ser | |
| ENST00000555000.5:c.217G>A | ENSP00000450472.1:p.Gly73Ser | |
| ENST00000557316.5:c.*248G>A | ENSP00000452314.1:n.*248G>A | |
| ENST00000622264.4:c.840G>A | ||
| NM_000153.3:c.850G>A | NP_000144.2:p.Gly284Ser | |
| NM_001201401.1:c.781G>A | NP_001188330.1:p.Gly261Ser | |
| NM_001201402.1:c.772G>A | NP_001188331.1:p.Gly258Ser | |
| XM_011536618.1:c.682G>A | XP_011534920.1:p.Gly228Ser | |
| XM_011536618.2:c.682G>A | XP_011534920.1:p.Gly228Ser | |
| NM_000153.4:c.850G>A MANE Select | NP_000144.2:p.Gly284Ser | |
| NM_001201401.2:c.781G>A | NP_001188330.1:p.Gly261Ser | |
| NM_001201402.2:c.772G>A | NP_001188331.1:p.Gly258Ser |