Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52397867A>C , CM000675.2:g.52397867A>C | GRCh38 |
| NC_000013.10:g.52972002A>C , CM000675.1:g.52972002A>C | GRCh37 |
| NC_000013.9:g.51870003A>C | NCBI36 |
| NG_047168.1:g.13628T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258613.5:c.386T>G MANE Select | ENSP00000258613.4:p.Val129Gly | |
| ENST00000648254.1:c.386T>G | ENSP00000497520.1:p.Val129Gly | |
| ENST00000258613.4:c.386T>G | ENSP00000258613.4:p.Val129Gly | |
| ENST00000349258.8:c.386T>G | ENSP00000340650.4:p.Val129Gly | |
| NM_018676.3:c.386T>G | NP_061146.1:p.Val129Gly | |
| NM_199263.2:c.386T>G | NP_954872.1:p.Val129Gly | |
| NM_018676.4:c.386T>G MANE Select | NP_061146.1:p.Val129Gly | |
| NM_199263.3:c.386T>G | NP_954872.1:p.Val129Gly |