Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978002T>C , CM000667.2:g.149978002T>C | GRCh38 |
| NC_000005.9:g.149357565T>C , CM000667.1:g.149357565T>C | GRCh37 |
| NC_000005.8:g.149337758T>C | NCBI36 |
| NG_007147.2:g.19120T>C , LRG_684:g.19120T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.582T>C | ||
| ENST00000286298.5:c.350T>C MANE Select | ENSP00000286298.4:p.Ile117Thr | |
| ENST00000286298.4:c.350T>C | ENSP00000286298.4:p.Ile117Thr | |
| ENST00000503336.1:c.23T>C | ENSP00000426053.1:p.Ile8Thr | |
| NM_000112.3:c.350T>C , LRG_684t1:c.350T>C | NP_000103.2:p.Ile117Thr | |
| XM_017009191.2:c.350T>C | XP_016864680.1:p.Ile117Thr | |
| NM_000112.4:c.350T>C MANE Select | NP_000103.2:p.Ile117Thr |