ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56042167A>T , CM000674.2:g.56042167A>T | GRCh38 |
| NC_000012.11:g.56435951A>T , CM000674.1:g.56435951A>T | GRCh37 |
| NC_000012.10:g.54722218A>T | NCBI36 |
| NG_023201.1:g.5266A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.1A>T | ENSP00000348849.5:p.Met1Leu | |
| ENST00000646449.2:c.1A>T MANE Select | ENSP00000496643.1:p.Met1Leu | |
| ENST00000356464.9:c.1A>T | ENSP00000348849.5:p.Met1Leu | |
| ENST00000548590.1:n.28A>T | ||
| ENST00000552361.1:c.1A>T | ENSP00000450339.1:p.Met1Leu | |
| NM_001029.3:c.1A>T | NP_001020.2:p.Met1Leu | |
| NM_001029.5:c.1A>T MANE Select | NP_001020.2:p.Met1Leu |