Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41743977C>A , CM000683.2:g.41743977C>A | GRCh38 |
| NC_000021.8:g.43164137C>A , CM000683.1:g.43164137C>A | GRCh37 |
| NC_000021.7:g.42037206C>A | NCBI36 |
| NG_032113.1:g.28113G>T | |
| NG_032113.2:g.28113G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332512.8:c.1100G>T MANE Select | ENSP00000332454.3:p.Ser367Ile | |
| ENST00000332512.7:c.1100G>T | ENSP00000332454.3:p.Ser367Ile | |
| ENST00000352483.3:c.1244G>T | ENSP00000330161.2:p.Ser415Ile | |
| NM_020639.2:c.1100G>T | NP_065690.2:p.Ser367Ile | |
| NM_020639.3:c.1100G>T MANE Select | NP_065690.2:p.Ser367Ile |