Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115479T>G , CM000681.2:g.10115479T>G | GRCh38 |
| NC_000019.9:g.10226155T>G , CM000681.1:g.10226155T>G | GRCh37 |
| NC_000019.8:g.10087155T>G | NCBI36 |
| NG_047007.1:g.8959T>G | |
| NG_051197.1:g.9446A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.947A>C MANE Select | ENSP00000253108.3:p.Lys316Thr | |
| ENST00000253108.8:c.947A>C | ENSP00000253108.3:p.Lys316Thr | |
| ENST00000590158.1:n.966A>C | ||
| ENST00000593054.5:c.341A>C | ENSP00000467187.1:p.Lys114Thr | |
| NM_003755.3:c.947A>C | NP_003746.2:p.Lys316Thr | |
| NM_003755.4:c.947A>C | NP_003746.2:p.Lys316Thr | |
| NM_003755.5:c.947A>C MANE Select | NP_003746.2:p.Lys316Thr |