Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.75043923C>T , CM000672.2:g.75043923C>T | GRCh38 |
| NC_000010.10:g.76803681C>T , CM000672.1:g.76803681C>T | GRCh37 |
| NC_000010.9:g.76473687C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001003892.3:c.295G>A MANE Select | NP_001003892.1:p.Asp99Asn |
| ENST00000338487.6:c.295G>A MANE Select | ENSP00000340609.5:p.Asp99Asn |
| NM_001003892.1:c.295G>A | NP_001003892.1:p.Asp99Asn |
| NM_001003892.2:c.295G>A | NP_001003892.1:p.Asp99Asn |
| NM_001384909.1:c.295G>A | NP_001371838.1:p.Asp99Asn |
| ENST00000338487.5:c.295G>A | ENSP00000340609.5:p.Asp99Asn |
| XM_005269762.2:c.295G>A | XP_005269819.1:p.Asp99Asn |
| XM_011539747.1:c.295G>A | XP_011538049.1:p.Asp99Asn |
| XM_011539747.2:c.295G>A | XP_011538049.1:p.Asp99Asn |