Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48442624G>C , CM000681.2:g.48442624G>C | GRCh38 |
| NC_000019.9:g.48945881G>C , CM000681.1:g.48945881G>C | GRCh37 |
| NC_000019.8:g.53637693G>C | NCBI36 |
| NG_046925.1:g.1852G>C | |
| NG_052829.1:g.52750G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000836.4:c.2698G>C MANE Select | NP_000827.2:p.Glu900Gln |
| ENST00000263269.4:c.2698G>C MANE Select | ENSP00000263269.2:p.Glu900Gln |
| NM_000836.2:c.2698G>C | NP_000827.2:p.Glu900Gln |
| ENST00000263269.3:c.2698G>C | ENSP00000263269.2:p.Glu900Gln |
| XM_011526872.1:c.2698G>C | XP_011525174.1:p.Glu900Gln |