Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55151913T>G , CM000681.2:g.55151913T>G | GRCh38 |
| NC_000019.9:g.55663281T>G , CM000681.1:g.55663281T>G | GRCh37 |
| NC_000019.8:g.60355093T>G | NCBI36 |
| NG_007866.2:g.10820A>C , LRG_432:g.10820A>C | |
| NG_011829.2:g.2326A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344887.10:c.554A>C MANE Select | ENSP00000341838.5:p.Asn185Thr | |
| ENST00000665070.1:c.587A>C | ENSP00000499482.1:p.Asn196Thr | |
| ENST00000344887.9:c.554A>C | ENSP00000341838.5:p.Asn185Thr | |
| ENST00000585806.5:n.553A>C | ||
| ENST00000588882.1:c.479A>C | ENSP00000466729.1:p.Asn160Thr | |
| ENST00000589864.1:n.382A>C | ||
| NM_000363.4:c.554A>C , LRG_432t1:c.554A>C | NP_000354.4:p.Asn185Thr | |
| NM_000363.5:c.554A>C MANE Select | NP_000354.4:p.Asn185Thr |