Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154068C>A , CM000681.2:g.55154068C>A | GRCh38 |
| NC_000019.9:g.55665436C>A , CM000681.1:g.55665436C>A | GRCh37 |
| NC_000019.8:g.60357248C>A | NCBI36 |
| NG_007866.2:g.8665G>T , LRG_432:g.8665G>T | |
| NG_011829.2:g.171G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.511G>T MANE Select | ENSP00000341838.5:p.Ala171Ser | |
| ENST00000665070.1:c.544G>T | ENSP00000499482.1:p.Ala182Ser | |
| ENST00000344887.9:c.511G>T | ENSP00000341838.5:p.Ala171Ser | |
| ENST00000585806.5:n.510G>T | ||
| ENST00000588882.1:c.436G>T | ENSP00000466729.1:p.Ala146Ser | |
| ENST00000589864.1:n.339G>T | ||
| NM_000363.4:c.511G>T , LRG_432t1:c.511G>T | NP_000354.4:p.Ala171Ser | |
| NM_000363.5:c.511G>T MANE Select | NP_000354.4:p.Ala171Ser |