Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942729A>G , CM000678.2:g.67942729A>G | GRCh38 |
| NC_000016.9:g.67976632A>G , CM000678.1:g.67976632A>G | GRCh37 |
| NC_000016.8:g.66534133A>G | NCBI36 |
| NG_009778.1:g.6384T>C | |
| NG_033098.1:g.30966T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000229.2:c.465T>C MANE Select | NP_000220.1:p.Asn155= |
| ENST00000264005.10:c.465T>C MANE Select | ENSP00000264005.5:p.Asn155= |
| NM_000229.1:c.465T>C | NP_000220.1:p.Asn155= |
| ENST00000264005.9:c.465T>C | ENSP00000264005.5:p.Asn155= |
| ENST00000570369.5:c.155+132T>C | |
| ENST00000570980.1:c.249T>C | ENSP00000464651.1:p.Asn83= |
| ENST00000573538.5:c.108T>C | ENSP00000463220.1:p.Asn36= |
| ENST00000573846.1:n.79T>C | |
| ENST00000575277.1:n.243T>C | |
| ENST00000575467.5:c.*160T>C | ENSP00000460653.1:n.*160T>C |