Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19960903C>A , CM000670.2:g.19960903C>A | GRCh38 |
| NC_000008.10:g.19818414C>A , CM000670.1:g.19818414C>A | GRCh37 |
| NC_000008.9:g.19862694C>A | NCBI36 |
| NG_008855.1:g.26833C>A | |
| NG_008855.2:g.64187C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.1142C>A MANE Select | ENSP00000497642.1:p.Pro381His | |
| ENST00000650478.1:c.82C>A | ENSP00000497560.1:p.Leu28Met | |
| ENST00000311322.8:c.1142C>A | ENSP00000309757.6:p.Pro381His | |
| NM_000237.2:c.1142C>A | NP_000228.1:p.Pro381His | |
| NM_000237.3:c.1142C>A MANE Select | NP_000228.1:p.Pro381His |