Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371361C>A , CM000680.2:g.60371361C>A | GRCh38 |
| NC_000018.9:g.58038594C>A , CM000680.1:g.58038594C>A | GRCh37 |
| NC_000018.8:g.56189574C>A | NCBI36 |
| NG_016441.1:g.6408G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.989G>T MANE Select | ENSP00000299766.3:p.Ser330Ile | |
| ENST00000299766.4:c.989G>T | ENSP00000299766.3:p.Ser330Ile | |
| NM_005912.2:c.989G>T | NP_005903.2:p.Ser330Ile | |
| NM_005912.3:c.989G>T MANE Select | NP_005903.2:p.Ser330Ile |