Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2866809T>C , CM000686.2:g.2866809T>C | GRCh38 |
| NC_000024.9:g.2734850T>C , CM000686.1:g.2734850T>C | GRCh37 |
| NC_000024.8:g.2794850T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250784.13:c.707T>C MANE Select | ENSP00000250784.7:p.Ile236Thr | |
| ENST00000250784.12:c.707T>C | ENSP00000250784.7:p.Ile236Thr | |
| ENST00000430575.1:c.734T>C | ENSP00000415317.1:p.Ile245Thr | |
| ENST00000477725.1:n.851T>C | ||
| ENST00000515575.1:n.42+12038T>C | ||
| NM_001008.3:c.707T>C | NP_000999.1:p.Ile236Thr | |
| NM_001008.4:c.707T>C MANE Select | NP_000999.1:p.Ile236Thr |