Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942843C= , CM000678.2:g.67942843C= | GRCh38 |
| NC_000016.9:g.67976746C= , CM000678.1:g.67976746C= | GRCh37 |
| NC_000016.8:g.66534247C= | NCBI36 |
| NG_009778.1:g.6270G= | |
| NG_033098.1:g.30852G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.427+18G= MANE Select | ENSP00000264005.5:n.427+18G= | |
| ENST00000264005.9:c.427+18G= | ENSP00000264005.5:n.427+18G= | |
| ENST00000570369.5:c.155+18G= | ||
| ENST00000570980.1:c.211+18G= | ENSP00000464651.1:n.211+18G= | |
| ENST00000573538.5:c.70+18G= | ENSP00000463220.1:n.70+18G= | |
| ENST00000573846.1:n.41+18G= | ||
| ENST00000575277.1:n.205+18G= | ||
| ENST00000575467.5:c.*122+18G= | ENSP00000460653.1:n.*122+18G= | |
| NM_000229.1:c.427+18G= | NP_000220.1:n.427+18G= | |
| NM_000229.2:c.427+18G= MANE Select | NP_000220.1:n.427+18G= |