Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.157416055G>C , CM000669.2:g.157416055G>C | GRCh38 |
| NC_000007.13:g.157208749G>C , CM000669.1:g.157208749G>C | GRCh37 |
| NC_000007.12:g.156901510G>C | NCBI36 |
| NG_032573.1:g.84040G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_058246.4:c.938G>C MANE Select | NP_490647.1:p.Arg313Thr |
| ENST00000262177.9:c.938G>C MANE Select | ENSP00000262177.4:p.Arg313Thr |
| NM_001363676.1:c.593G>C | NP_001350605.1:p.Arg198Thr |
| NM_058246.3:c.938G>C | NP_490647.1:p.Arg313Thr |
| ENST00000262177.8:c.938G>C | ENSP00000262177.4:p.Arg313Thr |
| ENST00000443280.5:c.593G>C | ENSP00000396267.1:p.Arg198Thr |
| ENST00000459889.5:c.*5461G>C | ENSP00000488263.1:n.*5461G>C |
| XM_006715823.1:c.731G>C | XP_006715886.1:p.Arg244Thr |
| XM_006715823.2:c.731G>C | XP_006715886.1:p.Arg244Thr |