Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109851911G>A , CM000666.2:g.109851911G>A | GRCh38 |
| NC_000004.11:g.110773067G>A , CM000666.1:g.110773067G>A | GRCh37 |
| NC_000004.10:g.110992516G>A | NCBI36 |
| NG_033249.1:g.8728G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198506.5:c.524G>A MANE Select | NP_940908.3:p.Ser175Asn |
| ENST00000594814.6:c.524G>A MANE Select | ENSP00000469759.1:p.Ser175Asn |
| NM_198506.4:c.524G>A | NP_940908.3:p.Ser175Asn |
| ENST00000327908.3:c.-183G>A | ENSP00000328222.3:n.-183G>A |
| ENST00000594814.5:c.524G>A | ENSP00000469759.1:p.Ser175Asn |
| XM_005262979.2:c.-183G>A | XP_005263036.1:n.-183G>A |
| XM_017008168.1:c.524G>A | XP_016863657.1:p.Ser175Asn |