Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.92866383G>C , CM000675.2:g.92866383G>C | GRCh38 |
| NC_000013.10:g.93518636G>C , CM000675.1:g.93518636G>C | GRCh37 |
| NC_000013.9:g.92316637G>C | NCBI36 |
| NG_009370.1:g.1472702G>C | |
| NG_009370.2:g.1472703G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377067.9:c.1663G>C MANE Select | ENSP00000366267.3:p.Glu555Gln | |
| ENST00000377067.8:c.1663G>C | ENSP00000366267.3:p.Glu555Gln | |
| ENST00000618283.1:c.102G>C | ||
| NM_004466.5:c.1663G>C | NP_004457.1:p.Glu555Gln | |
| NM_004466.6:c.1663G>C MANE Select | NP_004457.1:p.Glu555Gln |