Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767416A>C , CM000676.2:g.28767416A>C | GRCh38 |
| NC_000014.8:g.29236622A>C , CM000676.1:g.29236622A>C | GRCh37 |
| NC_000014.7:g.28306373A>C | NCBI36 |
| NG_009367.1:g.5336A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005249.5:c.137A>C MANE Select | NP_005240.3:p.Gln46Pro |
| ENST00000313071.7:c.137A>C MANE Select | ENSP00000339004.3:p.Gln46Pro |
| NM_005249.4:c.137A>C | NP_005240.3:p.Gln46Pro |
| ENST00000313071.6:c.137A>C | ENSP00000339004.3:p.Gln46Pro |
| ENST00000706482.1:c.137A>C | ENSP00000516406.1:p.Gln46Pro |