Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.35387139T>C , CM000684.2:g.35387139T>C | GRCh38 |
| NC_000022.10:g.35783132T>C , CM000684.1:g.35783132T>C | GRCh37 |
| NC_000022.9:g.34113132T>C | NCBI36 |
| NG_023030.1:g.11073T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216117.9:c.599T>C MANE Select | ENSP00000216117.8:p.Ile200Thr | |
| ENST00000481190.2:c.*504T>C | ENSP00000503987.1:n.*504T>C | |
| ENST00000677931.1:c.145-2725T>C | ENSP00000502849.1:n.145-2725T>C | |
| ENST00000678411.1:c.206T>C | ENSP00000503526.1:p.Ile69Thr | |
| ENST00000679074.1:c.599T>C | ENSP00000503459.1:p.Ile200Thr | |
| ENST00000216117.8:c.599T>C | ENSP00000216117.8:p.Ile200Thr | |
| ENST00000494998.1:n.100T>C | ||
| NM_002133.2:c.599T>C | NP_002124.1:p.Ile200Thr | |
| NM_002133.3:c.599T>C MANE Select | NP_002124.1:p.Ile200Thr |