Linked Data
ClinVar Variation Id:
285494
dbSNP Id:
rs78640816
ExAC:
14:21899541 C / T
gnomAD v2:
14-21899541-C-T
gnomAD v3:
14-21431382-C-T
gnomAD v4:
14-21431382-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21431382C>T , CM000676.2:g.21431382C>T | GRCh38 |
| NC_000014.8:g.21899541C>T , CM000676.1:g.21899541C>T | GRCh37 |
| NC_000014.7:g.20969381C>T | NCBI36 |
| NG_021249.1:g.10917G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000430710.8:c.6+429G>A | ENSP00000406288.3:n.6+429G>A | |
| ENST00000553651.2:n.603G>A | ||
| ENST00000555962.6:c.-111+429G>A | ENSP00000495174.1:n.-111+429G>A | |
| ENST00000557364.6:c.262G>A | ENSP00000451601.1:p.Glu88Lys | |
| ENST00000642518.1:c.6+429G>A | ENSP00000496722.1:n.6+429G>A | |
| ENST00000643048.1:n.557G>A | ||
| ENST00000643469.1:c.262G>A | ENSP00000495070.1:p.Glu88Lys | |
| ENST00000645140.1:c.174G>A | ||
| ENST00000645929.1:c.6+429G>A | ENSP00000494402.1:n.6+429G>A | |
| ENST00000646063.1:c.349G>A | ENSP00000496565.1:p.Glu117Lys | |
| ENST00000646340.1:c.268G>A | ENSP00000496730.1:p.Glu90Lys | |
| ENST00000646647.2:c.262G>A MANE Select | ENSP00000495240.1:p.Glu88Lys | |
| ENST00000399982.6:c.262G>A | ENSP00000382863.2:p.Glu88Lys | |
| ENST00000430710.7:c.6+429G>A | ENSP00000406288.3:n.6+429G>A | |
| ENST00000553283.1:c.97-2047G>A | ENSP00000450860.1:n.97-2047G>A | |
| ENST00000553622.5:c.187G>A | ENSP00000450957.1:p.Glu63Lys | |
| ENST00000555962.5:n.150+429G>A | ||
| ENST00000557364.5:c.262G>A | ENSP00000451601.1:p.Glu88Lys | |
| NM_001170629.1:c.262G>A | NP_001164100.1:p.Glu88Lys | |
| NM_020920.3:c.6+429G>A | NP_065971.2:n.6+429G>A | |
| NM_001170629.2:c.262G>A MANE Select | NP_001164100.1:p.Glu88Lys | |
| NM_020920.4:c.6+429G>A | NP_065971.2:n.6+429G>A |