Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153774047G>C , CM000685.2:g.153774047G>C | GRCh38 |
| NC_000023.9:g.152692696G>C | NCBI36 |
| NG_013255.1:g.14852G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005393.3:c.3468G>C MANE Select | NP_005384.2:p.Glu1156Asp |
| ENST00000361971.10:c.3468G>C MANE Select | ENSP00000355378.5:p.Glu1156Asp |
| NM_001163257.1:c.3537G>C | NP_001156729.1:p.Glu1179Asp |
| NM_001163257.2:c.3537G>C | NP_001156729.1:p.Glu1179Asp |
| NM_005393.2:c.3468G>C | NP_005384.2:p.Glu1156Asp |
| ENST00000361971.9:c.3468G>C | ENSP00000355378.5:p.Glu1156Asp |
| ENST00000538966.5:c.3537G>C | ENSP00000442736.1:p.Glu1179Asp |