Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893087C>T , CM000664.2:g.218893087C>T | GRCh38 |
| NC_000002.11:g.219757809C>T , CM000664.1:g.219757809C>T | GRCh37 |
| NC_000002.10:g.219466053C>T | NCBI36 |
| NG_012179.1:g.17555C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025216.3:c.1070C>T MANE Select | NP_079492.2:p.Thr357Ile |
| ENST00000258411.8:c.1070C>T MANE Select | ENSP00000258411.3:p.Thr357Ile |
| NM_025216.2:c.1070C>T | NP_079492.2:p.Thr357Ile |
| ENST00000258411.7:c.1070C>T | ENSP00000258411.3:p.Thr357Ile |
| ENST00000458582.1:c.577C>T | |
| XM_011511928.1:c.1019C>T | XP_011510230.1:p.Thr340Ile |
| XM_011511929.1:c.974C>T | XP_011510231.1:p.Thr325Ile |
| XM_011511929.2:c.974C>T | XP_011510231.1:p.Thr325Ile |
| XM_011511930.1:c.690C>T | XP_011510232.1:p.His230= |