Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86510982G>C , CM000678.2:g.86510982G>C | GRCh38 |
| NC_000016.9:g.86544588G>C , CM000678.1:g.86544588G>C | GRCh37 |
| NC_000016.8:g.85102089G>C | NCBI36 |
| NG_016273.1:g.5456G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001451.3:c.413G>C MANE Select | NP_001442.2:p.Arg138Pro |
| ENST00000262426.6:c.413G>C MANE Select | ENSP00000262426.4:p.Arg138Pro |
| NM_001451.2:c.413G>C | NP_001442.2:p.Arg138Pro |
| ENST00000262426.5:c.413G>C | ENSP00000262426.4:p.Arg138Pro |