Linked Data
dbSNP Id:
rs2132096165
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72577887T>G , CM000671.2:g.72577887T>G | GRCh38 |
| NC_000009.11:g.75192803T>G , CM000671.1:g.75192803T>G | GRCh37 |
| NC_000009.10:g.74382623T>G | NCBI36 |
| NG_008213.1:g.61087T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.-427-15T>G MANE Select | ENSP00000297784.6:n.-427-15T>G | |
| ENST00000643676.1:n.307-38481T>G | ||
| ENST00000645208.2:c.-442T>G | ENSP00000494684.1:n.-442T>G | |
| ENST00000650689.1:n.66-15T>G | ||
| ENST00000651183.1:c.-528-15T>G | ENSP00000498723.1:n.-528-15T>G | |
| ENST00000651743.1:n.116-15T>G | ||
| ENST00000297784.9:c.-427-15T>G | ENSP00000297784.5:n.-427-15T>G | |
| ENST00000497073.1:n.100T>G | ||
| NM_138691.2:c.-427-15T>G | NP_619636.2:n.-427-15T>G | |
| NM_138691.3:c.-427-15T>G MANE Select | NP_619636.2:n.-427-15T>G |