Linked Data
dbSNP Id:
rs1648990264
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168293180G>A , CM000663.2:g.168293180G>A | GRCh38 |
| NC_000001.10:g.168262418G>A , CM000663.1:g.168262418G>A | GRCh37 |
| NC_000001.9:g.166529042G>A | NCBI36 |
| NG_008244.1:g.17141G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367821.8:c.505G>A MANE Select | ENSP00000356795.3:p.Val169Ile | |
| ENST00000367821.7:c.505G>A | ENSP00000356795.3:p.Val169Ile | |
| ENST00000431969.5:c.302G>A | ||
| NM_005149.2:c.505G>A | NP_005140.1:p.Val169Ile | |
| NM_005149.3:c.505G>A MANE Select | NP_005140.1:p.Val169Ile |