Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7689882C>G , CM000674.2:g.7689882C>G | GRCh38 |
| NC_000012.11:g.7842478C>G , CM000674.1:g.7842478C>G | GRCh37 |
| NC_000012.10:g.7733745C>G | NCBI36 |
| NG_028167.1:g.10883G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329913.4:c.1091G>C MANE Select | ENSP00000331745.3:p.Gly364Ala | |
| ENST00000329913.3:c.1091G>C | ENSP00000331745.3:p.Gly364Ala | |
| NM_020634.1:c.1091G>C | NP_065685.1:p.Gly364Ala | |
| NM_020634.2:c.1091G>C | NP_065685.1:p.Gly364Ala | |
| NM_020634.3:c.1091G>C MANE Select | NP_065685.1:p.Gly364Ala |