Linked Data
ClinVar Variation Id:
38646
dbSNP Id:
rs34716011
gnomAD v3:
11-5226974-C-T
gnomAD v4:
11-5226974-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226974C>T , CM000673.2:g.5226974C>T | GRCh38 |
| NC_000011.9:g.5248204C>T , CM000673.1:g.5248204C>T | GRCh37 |
| NC_000011.8:g.5204780C>T | NCBI36 |
| NG_000007.3:g.70642G>A | |
| NG_059281.1:g.5098G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.48G>A | ENSP00000494175.1:p.Trp16Ter | |
| ENST00000335295.4:c.48G>A MANE Select | ENSP00000333994.3:p.Trp16Ter | |
| ENST00000380315.2:c.48G>A | ENSP00000369671.2:p.Trp16Ter | |
| ENST00000485743.1:n.99G>A | ||
| ENST00000633227.1:c.48G>A | ENSP00000488004.1:p.Trp16Ter | |
| NM_000518.4:c.48G>A | NP_000509.1:p.Trp16Ter | |
| NM_000518.5:c.48G>A MANE Select | NP_000509.1:p.Trp16Ter |