Linked Data
dbSNP Id:
rs1196751851
gnomAD v2:
8-10480209-A-G
gnomAD v3:
8-10622699-A-G
gnomAD v4:
8-10622699-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622699A>G , CM000670.2:g.10622699A>G | GRCh38 |
| NC_000008.10:g.10480209A>G , CM000670.1:g.10480209A>G | GRCh37 |
| NC_000008.9:g.10517619A>G | NCBI36 |
| NG_028035.1:g.37409T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.503T>C MANE Select | ENSP00000371923.3:p.Val168Ala | |
| ENST00000329335.3:n.753T>C | ||
| ENST00000382483.3:c.503T>C | ENSP00000371923.3:p.Val168Ala | |
| NM_178857.5:c.503T>C | NP_849188.4:p.Val168Ala | |
| NM_178857.6:c.503T>C MANE Select | NP_849188.4:p.Val168Ala |