Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23382562C>G , CM000676.2:g.23382562C>G | GRCh38 |
| NC_000014.8:g.23851771C>G , CM000676.1:g.23851771C>G | GRCh37 |
| NC_000014.7:g.22921611C>G | NCBI36 |
| NG_023444.1:g.30716G>C , LRG_389:g.30716G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405093.9:c.5662G>C MANE Select | ENSP00000386041.3:p.Glu1888Gln | |
| ENST00000651452.1:n.889G>C | ||
| ENST00000356287.3:c.5662G>C | ENSP00000348634.3:p.Glu1888Gln | |
| ENST00000405093.7:c.5662G>C | ENSP00000386041.3:p.Glu1888Gln | |
| NM_002471.3:c.5662G>C , LRG_389t1:c.5662G>C | NP_002462.2:p.Glu1888Gln | |
| NM_002471.4:c.5662G>C MANE Select | NP_002462.2:p.Glu1888Gln |