Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189004111G>C , CM000664.2:g.189004111G>C | GRCh38 |
| NC_000002.11:g.189868837G>C , CM000664.1:g.189868837G>C | GRCh37 |
| NC_000002.10:g.189577082G>C | NCBI36 |
| NG_007404.1:g.34739G>C , LRG_3:g.34739G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.2692G>C | ENSP00000415346.2:p.Glu898Gln | |
| ENST00000304636.9:c.2791G>C MANE Select | ENSP00000304408.4:p.Glu931Gln | |
| ENST00000304636.7:c.2791G>C | ENSP00000304408.3:p.Glu931Gln | |
| ENST00000317840.9:c.2527+1075G>C | ENSP00000315243.6:n.2527+1075G>C | |
| NM_000090.3:c.2791G>C , LRG_3t1:c.2791G>C | NP_000081.1:p.Glu931Gln | |
| NM_000090.4:c.2791G>C MANE Select | NP_000081.2:p.Glu931Gln |