Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527987C>T , CM000681.2:g.7527987C>T | GRCh38 |
| NC_000019.9:g.7592873C>T , CM000681.1:g.7592873C>T | GRCh37 |
| NC_000019.8:g.7498873C>T | NCBI36 |
| NG_015806.1:g.10378C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.777+27C>T MANE Select | ENSP00000264079.5:n.777+27C>T | |
| ENST00000264079.10:c.777+27C>T | ENSP00000264079.5:n.777+27C>T | |
| ENST00000394321.9:n.1092+27C>T | ||
| NM_020533.2:c.777+27C>T | NP_065394.1:n.777+27C>T | |
| NM_020533.3:c.777+27C>T MANE Select | NP_065394.1:n.777+27C>T |