Linked Data
ClinVar Variation Id:
439155
dbSNP Id:
rs35799536
ExAC:
11:5248219 G / T
gnomAD v2:
11-5248219-G-T
gnomAD v3:
11-5226989-G-T
gnomAD v4:
11-5226989-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226989G>T , CM000673.2:g.5226989G>T | GRCh38 |
| NC_000011.9:g.5248219G>T , CM000673.1:g.5248219G>T | GRCh37 |
| NC_000011.8:g.5204795G>T | NCBI36 |
| NG_000007.3:g.70627C>A | |
| NG_059281.1:g.5083C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.33C>A | ENSP00000494175.1:p.Ala11= | |
| ENST00000335295.4:c.33C>A MANE Select | ENSP00000333994.3:p.Ala11= | |
| ENST00000380315.2:c.33C>A | ENSP00000369671.2:p.Ala11= | |
| ENST00000485743.1:n.84C>A | ||
| ENST00000633227.1:c.33C>A | ENSP00000488004.1:p.Ala11= | |
| NM_000518.4:c.33C>A | NP_000509.1:p.Ala11= | |
| NM_000518.5:c.33C>A MANE Select | NP_000509.1:p.Ala11= |