Linked Data
ClinVar Variation Id:
406527
ClinVar RCV Id:
RCV000468574
dbSNP Id:
rs372572996
ExAC:
14:74156172 G / A
gnomAD v2:
14-74156172-G-A
gnomAD v4:
14-73689469-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73689469G>A , CM000676.2:g.73689469G>A | GRCh38 |
| NC_000014.8:g.74156172G>A , CM000676.1:g.74156172G>A | GRCh37 |
| NC_000014.7:g.73225925G>A | NCBI36 |
| NG_028083.1:g.49595G>A | |
| NG_028083.2:g.49595G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553645.7:c.486G>A MANE Select | ENSP00000452037.1:p.Trp162Ter | |
| ENST00000311089.7:c.147G>A | ENSP00000310360.3:p.Trp49Ter | |
| ENST00000553645.6:c.486G>A | ENSP00000452037.1:p.Trp162Ter | |
| ENST00000554113.5:c.147G>A | ENSP00000452368.1:p.Trp49Ter | |
| ENST00000554159.1:c.278+2084G>A | ENSP00000451264.1:n.278+2084G>A | |
| ENST00000554339.5:c.225G>A | ENSP00000450744.1:p.Trp75Ter | |
| ENST00000554871.5:c.369G>A | ENSP00000451834.1:p.Trp123Ter | |
| ENST00000555631.6:c.369G>A | ENSP00000451547.2:p.Trp123Ter | |
| ENST00000559993.1:c.147G>A | ENSP00000453439.1:p.Trp49Ter | |
| NM_001201366.1:c.369G>A | NP_001188295.1:p.Trp123Ter | |
| NM_031427.3:c.486G>A | NP_113615.2:p.Trp162Ter | |
| XM_011537204.1:c.369G>A | XP_011535506.1:p.Trp123Ter | |
| XM_017021679.2:c.369G>A | XP_016877168.1:p.Trp123Ter | |
| XM_024449715.1:c.369G>A | XP_024305483.1:p.Trp123Ter | |
| NM_031427.4:c.486G>A MANE Select | NP_113615.2:p.Trp162Ter | |
| NM_001201366.2:c.369G>A | NP_001188295.1:p.Trp123Ter |