Linked Data
dbSNP Id:
rs1951111526
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46897060C>T , CM000675.2:g.46897060C>T | GRCh38 |
| NC_000013.10:g.47471195C>T , CM000675.1:g.47471195C>T | GRCh37 |
| NC_000013.9:g.46369196C>T | NCBI36 |
| NG_013011.1:g.4975G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000543956.5:c.-464G>A | ENSP00000441861.2:n.-464G>A | |
| ENST00000542664.3:c.-715G>A | ENSP00000437737.1:n.-715G>A | |
| ENST00000543956.4:c.-227G>A | ENSP00000441861.1:n.-227G>A | |
| NM_000621.4:c.-715G>A | NP_000612.1:n.-715G>A | |
| NM_001165947.2:c.-227G>A | NP_001159419.1:n.-227G>A | |
| NM_001378924.1:c.-328-826G>A | NP_001365853.1:n.-328-826G>A |