Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52681863T>A , CM000668.2:g.52681863T>A | GRCh38 |
| NC_000006.11:g.52546661T>A , CM000668.1:g.52546661T>A | GRCh37 |
| NC_000006.10:g.52654620T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014051.4:c.121T>A MANE Select | NP_054770.1:p.Tyr41Asn |
| ENST00000211314.5:c.121T>A MANE Select | ENSP00000211314.4:p.Tyr41Asn |
| NM_014051.3:c.121T>A | NP_054770.1:p.Tyr41Asn |
| ENST00000211314.4:c.121T>A | ENSP00000211314.4:p.Tyr41Asn |
| XM_024446409.1:c.121T>A | XP_024302177.1:p.Tyr41Asn |