Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147904764C>A , CM000669.2:g.147904764C>A | GRCh38 |
| NC_000007.13:g.147601856C>A , CM000669.1:g.147601856C>A | GRCh37 |
| NC_000007.12:g.147232789C>A | NCBI36 |
| NG_007092.2:g.1793404C>A | |
| NG_007092.3:g.1793764C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.2255+1043C>A MANE Select | ENSP00000354778.3:n.2255+1043C>A | |
| ENST00000636870.1:n.2117+1043C>A | ||
| ENST00000637825.1:n.1738+1043C>A | ||
| ENST00000361727.7:c.2255+1043C>A | ENSP00000354778.3:n.2255+1043C>A | |
| ENST00000455301.2:n.190+1043C>A | ||
| ENST00000627772.2:n.428+1043C>A | ||
| NM_014141.5:c.2255+1043C>A | NP_054860.1:n.2255+1043C>A | |
| XM_006715919.1:c.743+1043C>A | XP_006715982.1:n.743+1043C>A | |
| NM_014141.6:c.2255+1043C>A MANE Select | NP_054860.1:n.2255+1043C>A |