Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.35387119C>T , CM000684.2:g.35387119C>T | GRCh38 |
| NC_000022.10:g.35783112C>T , CM000684.1:g.35783112C>T | GRCh37 |
| NC_000022.9:g.34113112C>T | NCBI36 |
| NG_023030.1:g.11053C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216117.9:c.579C>T MANE Select | ENSP00000216117.8:p.Pro193= | |
| ENST00000481190.2:c.*484C>T | ENSP00000503987.1:n.*484C>T | |
| ENST00000677931.1:c.145-2745C>T | ENSP00000502849.1:n.145-2745C>T | |
| ENST00000678411.1:c.186C>T | ENSP00000503526.1:p.Pro62= | |
| ENST00000679074.1:c.579C>T | ENSP00000503459.1:p.Pro193= | |
| ENST00000216117.8:c.579C>T | ENSP00000216117.8:p.Pro193= | |
| ENST00000494998.1:n.80C>T | ||
| NM_002133.2:c.579C>T | NP_002124.1:p.Pro193= | |
| NM_002133.3:c.579C>T MANE Select | NP_002124.1:p.Pro193= |