Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40847991G>A , CM000681.2:g.40847991G>A | GRCh38 |
| NC_000019.9:g.41353896G>A , CM000681.1:g.41353896G>A | GRCh37 |
| NC_000019.8:g.46045736G>A | NCBI36 |
| NG_008377.1:g.7457C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301141.10:c.654+228C>T MANE Select | ENSP00000301141.4:n.654+228C>T | |
| ENST00000301141.9:c.654+228C>T | ENSP00000301141.4:n.654+228C>T | |
| ENST00000596719.5:n.505+228C>T | ||
| ENST00000600495.1:c.*466+228C>T | ENSP00000472905.1:n.*466+228C>T | |
| ENST00000601627.1:c.120-44000G>A | ||
| ENST00000610301.1:c.654+228C>T | ENSP00000477899.1:n.654+228C>T | |
| NM_000762.5:c.654+228C>T | NP_000753.3:n.654+228C>T | |
| NM_000762.6:c.654+228C>T MANE Select | NP_000753.3:n.654+228C>T |