Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177995931C>G , CM000667.2:g.177995931C>G | GRCh38 |
| NC_000005.9:g.177422932C>G , CM000667.1:g.177422932C>G | GRCh37 |
| NC_000005.8:g.177355538C>G | NCBI36 |
| NG_015889.1:g.5312G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.3G>C MANE Select | ENSP00000311290.2:p.Met1Ile | |
| NM_006261.4:c.3G>C | NP_006252.3:p.Met1Ile | |
| NM_006261.5:c.3G>C MANE Select | NP_006252.4:p.Met1Ile |