Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86510714C>G , CM000678.2:g.86510714C>G | GRCh38 |
| NC_000016.9:g.86544320C>G , CM000678.1:g.86544320C>G | GRCh37 |
| NC_000016.8:g.85101821C>G | NCBI36 |
| NG_016273.1:g.5188C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001451.3:c.145C>G MANE Select | NP_001442.2:p.Pro49Ala |
| ENST00000262426.6:c.145C>G MANE Select | ENSP00000262426.4:p.Pro49Ala |
| NM_001451.2:c.145C>G | NP_001442.2:p.Pro49Ala |
| ENST00000262426.5:c.145C>G | ENSP00000262426.4:p.Pro49Ala |