Linked Data
dbSNP Id:
rs1045512571
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72577917G>A , CM000671.2:g.72577917G>A | GRCh38 |
| NC_000009.11:g.75192833G>A , CM000671.1:g.75192833G>A | GRCh37 |
| NC_000009.10:g.74382653G>A | NCBI36 |
| NG_008213.1:g.61117G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.-412G>A MANE Select | ENSP00000297784.6:n.-412G>A | |
| ENST00000643676.1:n.307-38451G>A | ||
| ENST00000645208.2:c.-412G>A | ENSP00000494684.1:n.-412G>A | |
| ENST00000650689.1:n.81G>A | ||
| ENST00000651183.1:c.-513G>A | ENSP00000498723.1:n.-513G>A | |
| ENST00000651743.1:n.131G>A | ||
| ENST00000297784.9:c.-412G>A | ENSP00000297784.5:n.-412G>A | |
| ENST00000497073.1:n.130G>A | ||
| NM_138691.2:c.-412G>A | NP_619636.2:n.-412G>A | |
| NM_138691.3:c.-412G>A MANE Select | NP_619636.2:n.-412G>A |