Linked Data
dbSNP Id:
rs1830271226
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127815014A>G , CM000671.2:g.127815014A>G | GRCh38 |
| NC_000009.11:g.130577293A>G , CM000671.1:g.130577293A>G | GRCh37 |
| NC_000009.10:g.129617114A>G | NCBI36 |
| NG_009551.1:g.44755T>C , LRG_589:g.44755T>C | |
| NG_023245.1:g.17140A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.*668T>C | ENSP00000479015.1:n.*668T>C | |
| ENST00000373203.8:c.*668T>C | ENSP00000362299.4:n.*668T>C | |
| ENST00000480266.5:c.*668T>C | ENSP00000479015.1:n.*668T>C | |
| NM_000118.3:c.*903T>C , LRG_589t1:c.*903T>C | NP_000109.1:n.*903T>C | |
| NM_001114753.2:c.*668T>C , LRG_589t2:c.*668T>C | NP_001108225.1:n.*668T>C | |
| NM_001278138.1:c.*668T>C | NP_001265067.1:n.*668T>C |