Linked Data
ClinVar Variation Id:
15401
dbSNP Id:
rs33986703
ExAC:
11:5248200 T / A
gnomAD v2:
11-5248200-T-A
gnomAD v3:
11-5226970-T-A
gnomAD v4:
11-5226970-T-A
MyVariant Identifiers:
chr11:g.5248200T>A (hg19)
chr11:g.5248200_5248201delinsAG (hg19)
chr11:g.5226970T>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226970T>A , CM000673.2:g.5226970T>A | GRCh38 |
| NC_000011.9:g.5248200T>A , CM000673.1:g.5248200T>A | GRCh37 |
| NC_000011.8:g.5204776T>A | NCBI36 |
| NG_000007.3:g.70646A>T | |
| NG_059281.1:g.5102A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.52A>T | ENSP00000494175.1:p.Lys18Ter | |
| ENST00000335295.4:c.52A>T MANE Select | ENSP00000333994.3:p.Lys18Ter | |
| ENST00000380315.2:c.52A>T | ENSP00000369671.2:p.Lys18Ter | |
| ENST00000485743.1:n.103A>T | ||
| ENST00000633227.1:c.52A>T | ENSP00000488004.1:p.Lys18Ter | |
| NM_000518.4:c.52A>T | NP_000509.1:p.Lys18Ter | |
| NM_000518.5:c.52A>T MANE Select | NP_000509.1:p.Lys18Ter |