Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213483G>C , CM000667.2:g.1213483G>C | GRCh38 |
| NC_000005.9:g.1213598G>C , CM000667.1:g.1213598G>C | GRCh37 |
| NC_000005.8:g.1266598G>C | NCBI36 |
| NG_008282.1:g.16889G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.684G>C MANE Select | ENSP00000305302.10:p.Thr228= | |
| ENST00000304460.10:c.684G>C | ENSP00000305302.10:p.Thr228= | |
| ENST00000515652.5:c.592G>C | ENSP00000425701.1:p.Ala198Pro | |
| NM_001003841.2:c.684G>C | NP_001003841.1:p.Thr228= | |
| NM_001003841.3:c.684G>C MANE Select | NP_001003841.1:p.Thr228= |