Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942939C= , CM000678.2:g.67942939C= | GRCh38 |
| NC_000016.9:g.67976842C= , CM000678.1:g.67976842C= | GRCh37 |
| NC_000016.8:g.66534343C= | NCBI36 |
| NG_009778.1:g.6174G= | |
| NG_033098.1:g.30756G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000229.2:c.349G= MANE Select | NP_000220.1:p.Ala117= |
| ENST00000264005.10:c.349G= MANE Select | ENSP00000264005.5:p.Ala117= |
| NM_000229.1:c.349G= | NP_000220.1:p.Ala117= |
| ENST00000264005.9:c.349G= | ENSP00000264005.5:p.Ala117= |
| ENST00000570369.5:c.77G= | |
| ENST00000570980.1:c.133G= | ENSP00000464651.1:p.Ala45= |
| ENST00000575277.1:n.127G= | |
| ENST00000575467.5:c.*44G= | ENSP00000460653.1:n.*44G= |