Linked Data
ClinVar Variation Id:
753387
ClinVar RCV Id:
RCV001278166
dbSNP Id:
rs1595226323
gnomAD v4:
14-87976432-A-G
MyVariant Identifiers:
chr14:g.88442776A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87976432A>G , CM000676.2:g.87976432A>G | GRCh38 |
| NC_000014.8:g.88442776A>G , CM000676.1:g.88442776A>G | GRCh37 |
| NC_000014.7:g.87512529A>G | NCBI36 |
| NG_011853.2:g.22132T>C | |
| NG_011853.3:g.22132T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.678T>C MANE Select | ENSP00000261304.2:p.Ser226= | |
| ENST00000261304.6:c.678T>C | ENSP00000261304.2:p.Ser226= | |
| ENST00000393568.8:c.609T>C | ENSP00000377198.4:p.Ser203= | |
| ENST00000393569.6:c.600T>C | ENSP00000377199.2:p.Ser200= | |
| ENST00000474294.6:n.668T>C | ||
| ENST00000477716.3:n.433T>C | ||
| ENST00000544807.6:c.510T>C | ENSP00000437513.2:p.Ser170= | |
| ENST00000554916.5:n.557T>C | ||
| ENST00000555000.5:c.45T>C | ENSP00000450472.1:p.Ser15= | |
| ENST00000557316.5:c.*76T>C | ENSP00000452314.1:n.*76T>C | |
| ENST00000622264.4:c.668T>C | ||
| NM_000153.3:c.678T>C | NP_000144.2:p.Ser226= | |
| NM_001201401.1:c.609T>C | NP_001188330.1:p.Ser203= | |
| NM_001201402.1:c.600T>C | NP_001188331.1:p.Ser200= | |
| XM_011536618.1:c.510T>C | XP_011534920.1:p.Ser170= | |
| XM_011536618.2:c.510T>C | XP_011534920.1:p.Ser170= | |
| NM_000153.4:c.678T>C MANE Select | NP_000144.2:p.Ser226= | |
| NM_001201401.2:c.609T>C | NP_001188330.1:p.Ser203= | |
| NM_001201402.2:c.600T>C | NP_001188331.1:p.Ser200= |