Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19956038A>T , CM000670.2:g.19956038A>T | GRCh38 |
| NC_000008.10:g.19813549A>T , CM000670.1:g.19813549A>T | GRCh37 |
| NC_000008.9:g.19857829A>T | NCBI36 |
| NG_008855.1:g.21968A>T | |
| NG_008855.2:g.59322A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.973A>T MANE Select | ENSP00000497642.1:p.Ser325Cys | |
| ENST00000650478.1:c.34A>T | ENSP00000497560.1:p.Ser12Cys | |
| ENST00000311322.8:c.973A>T | ENSP00000309757.6:p.Ser325Cys | |
| NM_000237.2:c.973A>T | NP_000228.1:p.Ser325Cys | |
| NM_000237.3:c.973A>T MANE Select | NP_000228.1:p.Ser325Cys |