Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527140C= , CM000681.2:g.7527140C= | GRCh38 |
| NC_000019.9:g.7592026C= , CM000681.1:g.7592026C= | GRCh37 |
| NC_000019.8:g.7498026C= | NCBI36 |
| NG_015806.1:g.9531C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.571+214C= MANE Select | ENSP00000264079.5:n.571+214C= | |
| ENST00000264079.10:c.571+214C= | ENSP00000264079.5:n.571+214C= | |
| ENST00000394321.9:n.651+214C= | ||
| ENST00000596008.1:n.747C= | ||
| ENST00000598406.1:n.392+214C= | ||
| ENST00000601003.1:c.571+214C= | ENSP00000469074.1:n.571+214C= | |
| NM_020533.2:c.571+214C= | NP_065394.1:n.571+214C= | |
| NM_020533.3:c.571+214C= MANE Select | NP_065394.1:n.571+214C= |