Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57460115C>A , CM000678.2:g.57460115C>A | GRCh38 |
| NC_000016.9:g.57494027C>A , CM000678.1:g.57494027C>A | GRCh37 |
| NC_000016.8:g.56051528C>A | NCBI36 |
| NG_027696.1:g.17691C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262507.11:c.921+11C>A MANE Select | ENSP00000262507.5:n.921+11C>A | |
| ENST00000262507.10:c.921+11C>A | ENSP00000262507.5:n.921+11C>A | |
| ENST00000563166.1:c.304-1057C>A | ENSP00000455495.1:n.304-1057C>A | |
| ENST00000567072.5:c.816+11C>A | ENSP00000456728.1:n.816+11C>A | |
| ENST00000567933.5:c.588+11C>A | ENSP00000456174.1:n.588+11C>A | |
| ENST00000569980.1:n.436+11C>A | ||
| NM_020312.3:c.921+11C>A | NP_064708.1:n.921+11C>A | |
| NM_020312.4:c.921+11C>A MANE Select | NP_064708.1:n.921+11C>A |