Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24953779C>G , CM000670.2:g.24953779C>G | GRCh38 |
| NC_000008.10:g.24811293C>G , CM000670.1:g.24811293C>G | GRCh37 |
| NC_000008.9:g.24867210C>G | NCBI36 |
| NG_008492.1:g.7839G>C , LRG_259:g.7839G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006158.5:c.1186G>C MANE Select | NP_006149.2:p.Glu396Gln |
| ENST00000610854.2:c.1186G>C MANE Select | ENSP00000482169.2:p.Glu396Gln |
| NM_006158.4:c.1186G>C , LRG_259t1:c.1186G>C | NP_006149.2:p.Glu396Gln |
| ENST00000610854.1:c.1186G>C | ENSP00000482169.1:p.Glu396Gln |
| ENST00000619417.1:c.*51G>C | ENSP00000483690.1:n.*51G>C |