Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133373332A>C , CM000672.2:g.133373332A>C | GRCh38 |
| NC_000010.10:g.135186836A>C , CM000672.1:g.135186836A>C | GRCh37 |
| NC_000010.9:g.135036826A>C | NCBI36 |
| NG_042077.1:g.5073T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004092.4:c.2T>G MANE Select | NP_004083.3:p.Met1Arg |
| ENST00000368547.4:c.2T>G MANE Select | ENSP00000357535.3:p.Met1Arg |
| NM_004092.3:c.2T>G | NP_004083.3:p.Met1Arg |
| ENST00000368547.3:c.2T>G | ENSP00000357535.3:p.Met1Arg |
| XR_002956965.1:n.65T>G |