Linked Data
dbSNP Id:
rs782346697
ExAC:
11:102738043 G / A
gnomAD v2:
11-102738043-G-A
gnomAD v4:
11-102867312-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102867312G>A , CM000673.2:g.102867312G>A | GRCh38 |
| NC_000011.9:g.102738043G>A , CM000673.1:g.102738043G>A | GRCh37 |
| NC_000011.8:g.102243253G>A | NCBI36 |
| NG_032936.1:g.12723C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000571244.3:c.869C>T MANE Select | ENSP00000458585.1:p.Ala290Val | |
| ENST00000571244.2:c.869C>T | ENSP00000458585.1:p.Ala290Val | |
| NM_002426.4:c.869C>T | NP_002417.2:p.Ala290Val | |
| NM_002426.5:c.869C>T | NP_002417.2:p.Ala290Val | |
| NM_002426.6:c.869C>T MANE Select | NP_002417.2:p.Ala290Val |