Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26020889G>C , CM000668.2:g.26020889G>C | GRCh38 |
| NC_000006.11:g.26021117G>C , CM000668.1:g.26021117G>C | GRCh37 |
| NC_000006.10:g.26129096G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003529.3:c.400G>C MANE Select | NP_003520.1:p.Glu134Gln |
| ENST00000613854.2:c.400G>C MANE Select | ENSP00000480826.2:p.Glu134Gln |
| NM_003529.2:c.400G>C | NP_003520.1:p.Glu134Gln |
| ENST00000613854.1:c.400G>C | ENSP00000480826.1:p.Glu134Gln |