Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.151181364C>T , CM000685.2:g.151181364C>T | GRCh38 |
| NC_000023.10:g.150349836C>T , CM000685.1:g.150349836C>T | GRCh37 |
| NC_000023.9:g.150100494C>T | NCBI36 |
| NG_016405.1:g.9781C>T | |
| NG_016405.2:g.9781C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218316.4:c.1781C>T MANE Select | ENSP00000218316.3:p.Thr594Ile | |
| ENST00000218316.3:c.1781C>T | ENSP00000218316.3:p.Thr594Ile | |
| ENST00000617907.1:c.1775C>T | ENSP00000484496.1:p.Thr592Ile | |
| NM_004224.3:c.1781C>T MANE Select | NP_004215.2:p.Thr594Ile | |
| XM_011531216.1:c.1040C>T | XP_011529518.1:p.Thr347Ile | |
| XM_011531216.2:c.1040C>T | XP_011529518.1:p.Thr347Ile |