Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133520234C>T , CM000671.2:g.133520234C>T | GRCh38 |
| NC_000009.11:g.136385356C>T , CM000671.1:g.136385356C>T | GRCh37 |
| NC_000009.10:g.135375177C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080483.3:c.190G>A MANE Select | NP_001073952.1:p.Asp64Asn |
| ENST00000339996.4:c.190G>A MANE Select | ENSP00000419712.2:p.Asp64Asn |
| NM_001080483.2:c.190G>A | NP_001073952.1:p.Asp64Asn |
| ENST00000339996.3:c.190G>A | ENSP00000419712.2:p.Asp64Asn |
| ENST00000413714.1:n.245G>A | |
| XM_011518673.1:c.115G>A | XP_011516975.1:p.Asp39Asn |