Linked Data
ClinVar Variation Id:
211058
dbSNP Id:
rs756690487
ExAC:
14:88452944 C / T
gnomAD v2:
14-88452944-C-T
gnomAD v3:
14-87986600-C-T
gnomAD v4:
14-87986600-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87986600C>T , CM000676.2:g.87986600C>T | GRCh38 |
| NC_000014.8:g.88452944C>T , CM000676.1:g.88452944C>T | GRCh37 |
| NC_000014.7:g.87522697C>T | NCBI36 |
| NG_011853.2:g.11964G>A | |
| NG_011853.3:g.11964G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261304.7:c.331G>A MANE Select | ENSP00000261304.2:p.Gly111Ser | |
| ENST00000261304.6:c.331G>A | ENSP00000261304.2:p.Gly111Ser | |
| ENST00000393568.8:c.262G>A | ENSP00000377198.4:p.Gly88Ser | |
| ENST00000393569.6:c.253G>A | ENSP00000377199.2:p.Gly85Ser | |
| ENST00000474294.6:n.321G>A | ||
| ENST00000544807.6:c.163G>A | ENSP00000437513.2:p.Gly55Ser | |
| ENST00000554372.5:c.*80G>A | ENSP00000451884.1:n.*80G>A | |
| ENST00000554916.5:n.210G>A | ||
| ENST00000556261.5:n.32G>A | ||
| ENST00000556879.5:c.391G>A | ENSP00000452208.1:n.391G>A | |
| ENST00000557316.5:c.331G>A | ENSP00000452314.1:p.Gly111Ser | |
| ENST00000622264.4:c.321G>A | ||
| NM_000153.3:c.331G>A | NP_000144.2:p.Gly111Ser | |
| NM_001201401.1:c.262G>A | NP_001188330.1:p.Gly88Ser | |
| NM_001201402.1:c.253G>A | NP_001188331.1:p.Gly85Ser | |
| XM_011536618.1:c.163G>A | XP_011534920.1:p.Gly55Ser | |
| XM_011536618.2:c.163G>A | XP_011534920.1:p.Gly55Ser | |
| NM_000153.4:c.331G>A MANE Select | NP_000144.2:p.Gly111Ser | |
| NM_001201401.2:c.262G>A | NP_001188330.1:p.Gly88Ser | |
| NM_001201402.2:c.253G>A | NP_001188331.1:p.Gly85Ser |