Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36663182T>A , CM000676.2:g.36663182T>A | GRCh38 |
| NC_000014.8:g.37132387T>A , CM000676.1:g.37132387T>A | GRCh37 |
| NC_000014.7:g.36202138T>A | NCBI36 |
| NG_013357.1:g.10615T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361487.7:c.290T>A MANE Select | ENSP00000355245.6:p.Ile97Asn | |
| ENST00000361487.6:c.290T>A | ENSP00000355245.6:p.Ile97Asn | |
| ENST00000402703.6:c.290T>A | ENSP00000384817.2:p.Ile97Asn | |
| ENST00000554201.1:c.-272T>A | ENSP00000450434.1:n.-272T>A | |
| NM_006194.3:c.290T>A | NP_006185.1:p.Ile97Asn | |
| NM_001372076.1:c.290T>A MANE Select | NP_001359005.1:p.Ile97Asn | |
| NM_006194.4:c.290T>A | NP_006185.1:p.Ile97Asn |