Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40202460T>C , CM000677.2:g.40202460T>C | GRCh38 |
| NC_000015.9:g.40494661T>C , CM000677.1:g.40494661T>C | GRCh37 |
| NC_000015.8:g.38281953T>C | NCBI36 |
| NG_016338.1:g.46452T>C , LRG_489:g.46452T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287598.11:c.1623T>C MANE Select | ENSP00000287598.7:p.Asn541= | |
| ENST00000287598.10:c.1623T>C | ENSP00000287598.6:p.Asn541= | |
| ENST00000412359.7:c.1665T>C | ENSP00000398470.3:p.Asn555= | |
| ENST00000558972.1:n.428T>C | ||
| ENST00000559733.5:c.735T>C | ||
| NM_001211.5:c.1623T>C , LRG_489t1:c.1623T>C | NP_001202.4:p.Asn541= | |
| XR_001751506.1:n.218-22259A>G | ||
| NM_001211.6:c.1623T>C MANE Select | NP_001202.5:p.Asn541= |