Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.157416091A>C , CM000669.2:g.157416091A>C | GRCh38 |
| NC_000007.13:g.157208785A>C , CM000669.1:g.157208785A>C | GRCh37 |
| NC_000007.12:g.156901546A>C | NCBI36 |
| NG_032573.1:g.84076A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_058246.4:c.974A>C MANE Select | NP_490647.1:p.Asn325Thr |
| ENST00000262177.9:c.974A>C MANE Select | ENSP00000262177.4:p.Asn325Thr |
| NM_001363676.1:c.629A>C | NP_001350605.1:p.Asn210Thr |
| NM_058246.3:c.974A>C | NP_490647.1:p.Asn325Thr |
| ENST00000262177.8:c.974A>C | ENSP00000262177.4:p.Asn325Thr |
| ENST00000443280.5:c.629A>C | ENSP00000396267.1:p.Asn210Thr |
| ENST00000459889.5:c.*5497A>C | ENSP00000488263.1:n.*5497A>C |
| XM_006715823.1:c.767A>C | XP_006715886.1:p.Asn256Thr |
| XM_006715823.2:c.767A>C | XP_006715886.1:p.Asn256Thr |