Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30756591T>C , CM000678.2:g.30756591T>C | GRCh38 |
| NC_000016.9:g.30767912T>C , CM000678.1:g.30767912T>C | GRCh37 |
| NC_000016.8:g.30675413T>C | NCBI36 |
| NG_016616.1:g.13293T>C | |
| NG_016616.2:g.13293T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563588.6:c.803T>C MANE Select | ENSP00000455607.1:p.Ile268Thr | |
| ENST00000328273.11:c.815T>C | ENSP00000329968.7:p.Ile272Thr | |
| ENST00000424889.7:c.803T>C | ENSP00000388571.3:p.Ile268Thr | |
| ENST00000563588.5:c.803T>C | ENSP00000455607.1:p.Ile268Thr | |
| ENST00000563913.5:n.1136T>C | ||
| ENST00000564838.5:n.932T>C | ||
| NM_000294.2:c.803T>C | NP_000285.1:p.Ile268Thr | |
| NM_001172432.1:c.803T>C | NP_001165903.1:p.Ile268Thr | |
| NM_000294.3:c.803T>C MANE Select | NP_000285.1:p.Ile268Thr | |
| NM_001172432.2:c.803T>C | NP_001165903.1:p.Ile268Thr |