Linked Data
ClinVar Variation Id:
1437112
dbSNP Id:
rs984722259
gnomAD v2:
5-172660053-G-A
gnomAD v3:
5-173233050-G-A
gnomAD v4:
5-173233050-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173233050G>A , CM000667.2:g.173233050G>A | GRCh38 |
| NC_000005.9:g.172660053G>A , CM000667.1:g.172660053G>A | GRCh37 |
| NC_000005.8:g.172592659G>A | NCBI36 |
| NG_013340.1:g.7263C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.494C>T MANE Select | ENSP00000327758.4:p.Ala165Val | |
| ENST00000329198.4:c.494C>T | ENSP00000327758.4:p.Ala165Val | |
| ENST00000424406.2:c.*447C>T | ENSP00000395378.2:n.*447C>T | |
| ENST00000521848.1:c.*293C>T | ENSP00000427906.1:n.*293C>T | |
| NM_001166175.1:c.*447C>T | NP_001159647.1:n.*447C>T | |
| NM_001166176.1:c.*293C>T | NP_001159648.1:n.*293C>T | |
| NM_004387.3:c.494C>T | NP_004378.1:p.Ala165Val | |
| NM_004387.4:c.494C>T MANE Select | NP_004378.1:p.Ala165Val | |
| NM_001166175.2:c.*447C>T | NP_001159647.1:n.*447C>T | |
| NM_001166176.2:c.*293C>T | NP_001159648.1:n.*293C>T |