Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.774122C>T , CM000669.2:g.774122C>T | GRCh38 |
| NC_000007.13:g.813759C>T , CM000669.1:g.813759C>T | GRCh37 |
| NC_000007.12:g.780285C>T | NCBI36 |
| NG_033137.1:g.52422C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017802.4:c.2006C>T MANE Select | NP_060272.3:p.Thr669Ile |
| ENST00000297440.11:c.2006C>T MANE Select | ENSP00000297440.6:p.Thr669Ile |
| NM_017802.3:c.2006C>T | NP_060272.3:p.Thr669Ile |
| NR_075098.1:n.1964C>T | |
| NR_075098.2:n.1966C>T | |
| ENST00000297440.10:c.2006C>T | ENSP00000297440.6:p.Thr669Ile |
| ENST00000403952.3:c.281C>T | ENSP00000384884.3:p.Thr94Ile |
| ENST00000440747.5:c.1410C>T | |
| XM_024446813.1:c.2006C>T | XP_024302581.1:p.Thr669Ile |
| XM_024446814.1:c.1400C>T | XP_024302582.1:p.Thr467Ile |