Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177995888G>T , CM000667.2:g.177995888G>T | GRCh38 |
| NC_000005.9:g.177422889G>T , CM000667.1:g.177422889G>T | GRCh37 |
| NC_000005.8:g.177355495G>T | NCBI36 |
| NG_015889.1:g.5355C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006261.5:c.46C>A MANE Select | NP_006252.4:p.Arg16= |
| ENST00000308304.2:c.46C>A MANE Select | ENSP00000311290.2:p.Arg16= |
| NM_006261.4:c.46C>A | NP_006252.3:p.Arg16= |