Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10284232C>T , CM000681.2:g.10284232C>T | GRCh38 |
| NC_000019.9:g.10394908C>T , CM000681.1:g.10394908C>T | GRCh37 |
| NC_000019.8:g.10255908C>T | NCBI36 |
| NG_007728.1:g.2259C>T | |
| NG_012083.1:g.18392C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264832.8:c.837C>T MANE Select | ENSP00000264832.2:p.Thr279= | |
| ENST00000264832.7:c.837C>T | ENSP00000264832.2:p.Thr279= | |
| ENST00000423829.2:c.171C>T | ENSP00000413124.2:p.Thr57= | |
| NM_000201.2:c.837C>T | NP_000192.2:p.Thr279= | |
| NM_000201.3:c.837C>T MANE Select | NP_000192.2:p.Thr279= |