Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6780467T>C , CM000679.2:g.6780467T>C | GRCh38 |
| NC_000017.10:g.6683786T>C , CM000679.1:g.6683786T>C | GRCh37 |
| NC_000017.9:g.6624510T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321535.5:c.599T>C MANE Select | ENSP00000321386.4:p.Ile200Thr | |
| ENST00000321535.4:c.599T>C | ENSP00000321386.4:p.Ile200Thr | |
| NM_153230.2:c.599T>C | NP_694962.1:p.Ile200Thr | |
| XM_011523697.1:c.599T>C | XP_011521999.1:p.Ile200Thr | |
| XR_243544.3:n.777T>C | ||
| NM_153230.3:c.599T>C MANE Select | NP_694962.1:p.Ile200Thr |