Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.615991G>C , CM000681.2:g.615991G>C | GRCh38 |
| NC_000019.9:g.615991G>C , CM000681.1:g.615991G>C | GRCh37 |
| NC_000019.8:g.566991G>C | NCBI36 |
| NG_023049.1:g.22578C>G | |
| NG_052810.1:g.31099G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251287.3:c.2187G>C MANE Select | ENSP00000251287.1:p.Thr729= | |
| ENST00000251287.2:c.2187G>C | ENSP00000251287.1:p.Thr729= | |
| NM_001194.3:c.2187G>C | NP_001185.3:p.Thr729= | |
| NM_001194.4:c.2187G>C MANE Select | NP_001185.3:p.Thr729= |