Linked Data
dbSNP Id:
rs1886497979
gnomAD v4:
14-87976459-A-C
MyVariant Identifiers:
chr14:g.88442803A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87976459A>C , CM000676.2:g.87976459A>C | GRCh38 |
| NC_000014.8:g.88442803A>C , CM000676.1:g.88442803A>C | GRCh37 |
| NC_000014.7:g.87512556A>C | NCBI36 |
| NG_011853.2:g.22105T>G | |
| NG_011853.3:g.22105T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.651T>G MANE Select | ENSP00000261304.2:p.Gly217= | |
| ENST00000261304.6:c.651T>G | ENSP00000261304.2:p.Gly217= | |
| ENST00000393568.8:c.582T>G | ENSP00000377198.4:p.Gly194= | |
| ENST00000393569.6:c.573T>G | ENSP00000377199.2:p.Gly191= | |
| ENST00000474294.6:n.641T>G | ||
| ENST00000477716.3:n.406T>G | ||
| ENST00000544807.6:c.483T>G | ENSP00000437513.2:p.Gly161= | |
| ENST00000554916.5:n.530T>G | ||
| ENST00000555000.5:c.18T>G | ENSP00000450472.1:p.Gly6= | |
| ENST00000557316.5:c.*49T>G | ENSP00000452314.1:n.*49T>G | |
| ENST00000622264.4:c.641T>G | ||
| NM_000153.3:c.651T>G | NP_000144.2:p.Gly217= | |
| NM_001201401.1:c.582T>G | NP_001188330.1:p.Gly194= | |
| NM_001201402.1:c.573T>G | NP_001188331.1:p.Gly191= | |
| XM_011536618.1:c.483T>G | XP_011534920.1:p.Gly161= | |
| XM_011536618.2:c.483T>G | XP_011534920.1:p.Gly161= | |
| NM_000153.4:c.651T>G MANE Select | NP_000144.2:p.Gly217= | |
| NM_001201401.2:c.582T>G | NP_001188330.1:p.Gly194= | |
| NM_001201402.2:c.573T>G | NP_001188331.1:p.Gly191= |