Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954132C>T , CM000670.2:g.19954132C>T | GRCh38 |
| NC_000008.10:g.19811643C>T , CM000670.1:g.19811643C>T | GRCh37 |
| NC_000008.9:g.19855923C>T | NCBI36 |
| NG_008855.1:g.20062C>T | |
| NG_008855.2:g.57416C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.554C>T MANE Select | ENSP00000497642.1:p.Ala185Val | |
| ENST00000311322.8:c.554C>T | ENSP00000309757.6:p.Ala185Val | |
| ENST00000520959.5:c.326C>T | ENSP00000428496.1:p.Ala109Val | |
| NM_000237.2:c.554C>T | NP_000228.1:p.Ala185Val | |
| NM_000237.3:c.554C>T MANE Select | NP_000228.1:p.Ala185Val |