Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41740870C>T , CM000683.2:g.41740870C>T | GRCh38 |
| NC_000021.8:g.43161030C>T , CM000683.1:g.43161030C>T | GRCh37 |
| NC_000021.7:g.42034099C>T | NCBI36 |
| NG_032113.1:g.31220G>A | |
| NG_032113.2:g.31220G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332512.8:c.2323G>A MANE Select | ENSP00000332454.3:p.Ala775Thr | |
| ENST00000332512.7:c.2323G>A | ENSP00000332454.3:p.Ala775Thr | |
| ENST00000352483.3:c.2467G>A | ENSP00000330161.2:p.Ala823Thr | |
| NM_020639.2:c.2323G>A | NP_065690.2:p.Ala775Thr | |
| NM_020639.3:c.2323G>A MANE Select | NP_065690.2:p.Ala775Thr |