Linked Data
ClinVar Variation Id:
284743
dbSNP Id:
rs111250264
ExAC:
14:21899462 G / A
gnomAD v2:
14-21899462-G-A
gnomAD v3:
14-21431303-G-A
gnomAD v4:
14-21431303-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21431303G>A , CM000676.2:g.21431303G>A | GRCh38 |
| NC_000014.8:g.21899462G>A , CM000676.1:g.21899462G>A | GRCh37 |
| NC_000014.7:g.20969302G>A | NCBI36 |
| NG_021249.1:g.10996C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000430710.8:c.6+508C>T | ENSP00000406288.3:n.6+508C>T | |
| ENST00000553651.2:n.682C>T | ||
| ENST00000555962.6:c.-111+508C>T | ENSP00000495174.1:n.-111+508C>T | |
| ENST00000557364.6:c.341C>T | ENSP00000451601.1:p.Thr114Met | |
| ENST00000642518.1:c.6+508C>T | ENSP00000496722.1:n.6+508C>T | |
| ENST00000643048.1:n.636C>T | ||
| ENST00000643469.1:c.341C>T | ENSP00000495070.1:p.Thr114Met | |
| ENST00000645140.1:c.253C>T | ||
| ENST00000645929.1:c.6+508C>T | ENSP00000494402.1:n.6+508C>T | |
| ENST00000646063.1:c.428C>T | ENSP00000496565.1:p.Thr143Met | |
| ENST00000646340.1:c.347C>T | ENSP00000496730.1:p.Thr116Met | |
| ENST00000646647.2:c.341C>T MANE Select | ENSP00000495240.1:p.Thr114Met | |
| ENST00000399982.6:c.341C>T | ENSP00000382863.2:p.Thr114Met | |
| ENST00000430710.7:c.6+508C>T | ENSP00000406288.3:n.6+508C>T | |
| ENST00000553283.1:c.97-1968C>T | ENSP00000450860.1:n.97-1968C>T | |
| ENST00000553622.5:c.266C>T | ENSP00000450957.1:p.Thr89Met | |
| ENST00000555962.5:n.150+508C>T | ||
| ENST00000557364.5:c.341C>T | ENSP00000451601.1:p.Thr114Met | |
| NM_001170629.1:c.341C>T | NP_001164100.1:p.Thr114Met | |
| NM_020920.3:c.6+508C>T | NP_065971.2:n.6+508C>T | |
| NM_001170629.2:c.341C>T MANE Select | NP_001164100.1:p.Thr114Met | |
| NM_020920.4:c.6+508C>T | NP_065971.2:n.6+508C>T |