Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100065279T>C , CM000672.2:g.100065279T>C | GRCh38 |
| NC_000010.10:g.101825036T>C , CM000672.1:g.101825036T>C | GRCh37 |
| NC_000010.9:g.101815026T>C | NCBI36 |
| NG_012060.1:g.21607A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001308.3:c.668A>G MANE Select | NP_001299.1:p.Asn223Ser |
| ENST00000370418.8:c.668A>G MANE Select | ENSP00000359446.3:p.Asn223Ser |
| NM_001308.2:c.668A>G | NP_001299.1:p.Asn223Ser |
| ENST00000370418.7:c.668A>G | ENSP00000359446.3:p.Asn223Ser |
| ENST00000441382.1:c.59A>G | ENSP00000410895.1:p.Asn20Ser |
| XM_011539299.1:c.710A>G | XP_011537601.1:p.Asn237Ser |