Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114045107G>T , CM000672.2:g.114045107G>T | GRCh38 |
| NC_000010.10:g.115804866G>T , CM000672.1:g.115804866G>T | GRCh37 |
| NC_000010.9:g.115794856G>T | NCBI36 |
| NG_012187.1:g.6061G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.975G>T MANE Select | ENSP00000358301.2:p.Thr325= | |
| ENST00000369295.3:c.975G>T | ENSP00000358301.2:p.Thr325= | |
| NM_000684.2:c.975G>T | NP_000675.1:p.Thr325= | |
| NM_000684.3:c.975G>T MANE Select | NP_000675.1:p.Thr325= |