Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26031734G>A , CM000668.2:g.26031734G>A | GRCh38 |
| NC_000006.11:g.26031962G>A , CM000668.1:g.26031962G>A | GRCh37 |
| NC_000006.10:g.26139941G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003537.4:c.327C>T MANE Select | NP_003528.1:p.Asn109= |
| ENST00000621411.3:c.327C>T MANE Select | ENSP00000484841.2:p.Asn109= |
| NM_003537.3:c.327C>T | NP_003528.1:p.Asn109= |
| ENST00000621411.1:c.327C>T | ENSP00000484841.1:p.Asn109= |