Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119677044A>C , CM000672.2:g.119677044A>C | GRCh38 |
| NC_000010.10:g.121436556A>C , CM000672.1:g.121436556A>C | GRCh37 |
| NC_000010.9:g.121426546A>C | NCBI36 |
| NG_016125.1:g.30675A>C , LRG_742:g.30675A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.1490A>C MANE Select | ENSP00000358081.4:p.Lys497Thr | |
| ENST00000369085.7:c.1490A>C | ENSP00000358081.3:p.Lys497Thr | |
| NM_004281.3:c.1490A>C , LRG_742t1:c.1490A>C | NP_004272.2:p.Lys497Thr | |
| XM_005270287.1:c.1487A>C | XP_005270344.1:p.Lys496Thr | |
| XM_005270287.2:c.1487A>C | XP_005270344.1:p.Lys496Thr | |
| NM_004281.4:c.1490A>C MANE Select | NP_004272.2:p.Lys497Thr |