Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188974551T>A , CM000664.2:g.188974551T>A | GRCh38 |
| NC_000002.11:g.189839277T>A , CM000664.1:g.189839277T>A | GRCh37 |
| NC_000002.10:g.189547522T>A | NCBI36 |
| NG_007404.1:g.5179T>A , LRG_3:g.5179T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.62T>A | ENSP00000415346.2:p.Ile21Asn | |
| ENST00000304636.9:c.62T>A MANE Select | ENSP00000304408.4:p.Ile21Asn | |
| ENST00000304636.7:c.62T>A | ENSP00000304408.3:p.Ile21Asn | |
| ENST00000317840.9:c.62T>A | ENSP00000315243.6:p.Ile21Asn | |
| ENST00000470167.1:n.158T>A | ||
| NM_000090.3:c.62T>A , LRG_3t1:c.62T>A | NP_000081.1:p.Ile21Asn | |
| XR_923687.1:n.1795-4072A>T | ||
| XR_923688.1:n.1795-4072A>T | ||
| XR_923689.1:n.90-4072A>T | ||
| XR_923689.3:n.85-4072A>T | ||
| NM_000090.4:c.62T>A MANE Select | NP_000081.2:p.Ile21Asn |