Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.56113567A>G , CM000670.2:g.56113567A>G | GRCh38 |
| NC_000008.10:g.57026126A>G , CM000670.1:g.57026126A>G | GRCh37 |
| NC_000008.9:g.57188680A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005372.1:c.416T>C MANE Select | NP_005363.1:p.Met139Thr |
| ENST00000311923.1:c.416T>C MANE Select | ENSP00000310722.1:p.Met139Thr |