Linked Data
ClinVar Variation Id:
2682317
ClinVar RCV Id:
RCV003479690
dbSNP Id:
rs35669628
ExAC:
11:5246865 G / A
gnomAD v2:
11-5246865-G-A
gnomAD v4:
11-5225635-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225635G>A , CM000673.2:g.5225635G>A | GRCh38 |
| NC_000011.9:g.5246865G>A , CM000673.1:g.5246865G>A | GRCh37 |
| NC_000011.8:g.5203441G>A | NCBI36 |
| NG_000007.3:g.71981C>T | |
| NG_059281.1:g.6437C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.407C>T | ENSP00000494175.1:p.Ala136Val | |
| ENST00000335295.4:c.407C>T MANE Select | ENSP00000333994.3:p.Ala136Val | |
| ENST00000633227.1:c.*223C>T | ENSP00000488004.1:n.*223C>T | |
| NM_000518.4:c.407C>T | NP_000509.1:p.Ala136Val | |
| NM_000518.5:c.407C>T MANE Select | NP_000509.1:p.Ala136Val |