Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739525A>T , CM000670.2:g.86739525A>T | GRCh38 |
| NC_000008.10:g.87751753A>T , CM000670.1:g.87751753A>T | GRCh37 |
| NC_000008.9:g.87820869A>T | NCBI36 |
| NG_016980.1:g.9151T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.211+130T>A MANE Select | ENSP00000316605.5:n.211+130T>A | |
| ENST00000681746.1:c.211+130T>A | ENSP00000505959.1:n.211+130T>A | |
| ENST00000320005.5:c.211+130T>A | ENSP00000316605.5:n.211+130T>A | |
| ENST00000519777.1:n.193+130T>A | ||
| NM_019098.4:c.211+130T>A | NP_061971.3:n.211+130T>A | |
| NM_019098.5:c.211+130T>A MANE Select | NP_061971.3:n.211+130T>A |