Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046351C>A , CM000667.2:g.136046351C>A | GRCh38 |
| NC_000005.9:g.135382040C>A , CM000667.1:g.135382040C>A | GRCh37 |
| NC_000005.8:g.135409939C>A | NCBI36 |
| NG_012646.1:g.22457C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.315C>A MANE Select | ENSP00000416330.2:p.Asn105Lys | |
| ENST00000442011.6:c.315C>A | ENSP00000416330.2:p.Asn105Lys | |
| ENST00000504185.5:n.472C>A | ||
| ENST00000506699.5:n.380C>A | ||
| ENST00000507018.5:c.232C>A | ||
| ENST00000515433.1:n.607C>A | ||
| NM_000358.2:c.315C>A | NP_000349.1:p.Asn105Lys | |
| NM_000358.3:c.315C>A MANE Select | NP_000349.1:p.Asn105Lys |