Linked Data
dbSNP Id:
rs929711712
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72577899C>T , CM000671.2:g.72577899C>T | GRCh38 |
| NC_000009.11:g.75192815C>T , CM000671.1:g.75192815C>T | GRCh37 |
| NC_000009.10:g.74382635C>T | NCBI36 |
| NG_008213.1:g.61099C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.-427-3C>T MANE Select | ENSP00000297784.6:n.-427-3C>T | |
| ENST00000643676.1:n.307-38469C>T | ||
| ENST00000645208.2:c.-430C>T | ENSP00000494684.1:n.-430C>T | |
| ENST00000650689.1:n.66-3C>T | ||
| ENST00000651183.1:c.-528-3C>T | ENSP00000498723.1:n.-528-3C>T | |
| ENST00000651743.1:n.116-3C>T | ||
| ENST00000297784.9:c.-427-3C>T | ENSP00000297784.5:n.-427-3C>T | |
| ENST00000497073.1:n.112C>T | ||
| NM_138691.2:c.-427-3C>T | NP_619636.2:n.-427-3C>T | |
| NM_138691.3:c.-427-3C>T MANE Select | NP_619636.2:n.-427-3C>T |