Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81444935A>T , CM000670.2:g.81444935A>T | GRCh38 |
| NC_000008.10:g.82357170A>T , CM000670.1:g.82357170A>T | GRCh37 |
| NC_000008.9:g.82519725A>T | NCBI36 |
| NG_052979.1:g.7589T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256103.3:c.128T>A MANE Select | ENSP00000256103.2:p.Ile43Asn | |
| ENST00000256103.2:c.128T>A | ENSP00000256103.2:p.Ile43Asn | |
| ENST00000519260.1:c.74-334T>A | ENSP00000429917.1:n.74-334T>A | |
| NM_002677.3:c.128T>A | NP_002668.1:p.Ile43Asn | |
| NM_001348381.1:c.74-334T>A | NP_001335310.1:n.74-334T>A | |
| NM_002677.4:c.128T>A | NP_002668.1:p.Ile43Asn | |
| NM_002677.5:c.128T>A MANE Select | NP_002668.1:p.Ile43Asn | |
| NM_001348381.2:c.74-334T>A | NP_001335310.1:n.74-334T>A |