Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.36236073T>A , CM000685.2:g.36236073T>A | GRCh38 |
| NC_000023.10:g.36254190T>A , CM000685.1:g.36254190T>A | GRCh37 |
| NC_000023.9:g.36164111T>A | NCBI36 |
| NG_016381.2:g.321340T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001304548.2:c.7154T>A MANE Select | NP_001291477.1:p.Ile2385Asn |
| ENST00000378653.8:c.7154T>A MANE Select | ENSP00000367922.5:p.Ile2385Asn |
| NM_001304548.1:c.7154T>A | NP_001291477.1:p.Ile2385Asn |
| ENST00000378653.7:c.7154T>A | ENSP00000367922.5:p.Ile2385Asn |
| ENST00000378657.7:c.-509T>A | ENSP00000367926.4:n.-509T>A |
| XM_017029452.1:c.7154T>A | XP_016884941.1:p.Ile2385Asn |