Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.96513574C>G , CM000672.2:g.96513574C>G | GRCh38 |
| NC_000010.10:g.98273331C>G , CM000672.1:g.98273331C>G | GRCh37 |
| NC_000010.9:g.98263321C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012465.4:c.112G>C MANE Select | NP_036597.1:p.Glu38Gln |
| ENST00000357947.4:c.112G>C MANE Select | ENSP00000350630.3:p.Glu38Gln |
| NM_012465.3:c.112G>C | NP_036597.1:p.Glu38Gln |
| ENST00000357947.3:c.112G>C | ENSP00000350630.3:p.Glu38Gln |
| ENST00000469598.1:n.345G>C |