Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226604C>A , CM000673.2:g.5226604C>A | GRCh38 |
| NC_000011.9:g.5247834C>A , CM000673.1:g.5247834C>A | GRCh37 |
| NC_000011.8:g.5204410C>A | NCBI36 |
| NG_000007.3:g.71012G>T | |
| NG_059281.1:g.5468G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.288G>T | ENSP00000494175.1:p.Lys96Asn | |
| ENST00000335295.4:c.288G>T MANE Select | ENSP00000333994.3:p.Lys96Asn | |
| ENST00000475226.1:n.220G>T | ||
| ENST00000485743.1:n.339G>T | ||
| ENST00000633227.1:c.*104G>T | ENSP00000488004.1:n.*104G>T | |
| NM_000518.4:c.288G>T | NP_000509.1:p.Lys96Asn | |
| NM_000518.5:c.288G>T MANE Select | NP_000509.1:p.Lys96Asn |