Linked Data
dbSNP Id:
rs1342680557
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72577913C>T , CM000671.2:g.72577913C>T | GRCh38 |
| NC_000009.11:g.75192829C>T , CM000671.1:g.75192829C>T | GRCh37 |
| NC_000009.10:g.74382649C>T | NCBI36 |
| NG_008213.1:g.61113C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.-416C>T MANE Select | ENSP00000297784.6:n.-416C>T | |
| ENST00000643676.1:n.307-38455C>T | ||
| ENST00000645208.2:c.-416C>T | ENSP00000494684.1:n.-416C>T | |
| ENST00000650689.1:n.77C>T | ||
| ENST00000651183.1:c.-517C>T | ENSP00000498723.1:n.-517C>T | |
| ENST00000651743.1:n.127C>T | ||
| ENST00000297784.9:c.-416C>T | ENSP00000297784.5:n.-416C>T | |
| ENST00000497073.1:n.126C>T | ||
| NM_138691.2:c.-416C>T | NP_619636.2:n.-416C>T | |
| NM_138691.3:c.-416C>T MANE Select | NP_619636.2:n.-416C>T |