Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48615054G= , CM000681.2:g.48615054G= | GRCh38 |
| NC_000019.9:g.49118311G= , CM000681.1:g.49118311G= | GRCh37 |
| NC_000019.8:g.53810123G= | NCBI36 |
| NG_029867.1:g.764G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263266.4:c.-1505C= MANE Select | ENSP00000263266.2:n.-1505C= | |
| XM_024451561.1:c.-1501C= | XP_024307329.1:n.-1501C= | |
| NM_017708.4:c.-1505C= MANE Select | NP_060178.2:n.-1505C= |