Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.56053788C>T , CM000681.2:g.56053788C>T | GRCh38 |
| NC_000019.9:g.56565154C>T , CM000681.1:g.56565154C>T | GRCh37 |
| NC_000019.8:g.61256966C>T | NCBI36 |
| NG_046924.1:g.72006C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_153447.4:c.3279C>T MANE Select | NP_703148.4:p.Asn1093= |
| ENST00000390649.8:c.3279C>T MANE Select | ENSP00000375063.3:p.Asn1093= |
| ENST00000390649.7:c.3279C>T | ENSP00000375063.3:p.Asn1093= |
| ENST00000621651.4:c.3279C>T | ENSP00000481137.1:p.Asn1093= |
| XM_011526444.1:c.3126C>T | XP_011524746.1:p.Asn1042= |