Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652619G= , CM000663.2:g.171652619G= | GRCh38 |
| NC_000001.10:g.171621759G= , CM000663.1:g.171621759G= | GRCh37 |
| NC_000001.9:g.169888382G= | NCBI36 |
| NG_008859.1:g.5015C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000261.2:c.-8C= MANE Select | NP_000252.1:n.-8C= |
| ENST00000037502.11:c.-8C= MANE Select | ENSP00000037502.5:n.-8C= |
| NM_000261.1:c.-8C= | NP_000252.1:n.-8C= |
| ENST00000037502.10:c.-8C= | ENSP00000037502.5:n.-8C= |
| ENST00000614688.1:c.-8C= | ENSP00000478680.1:n.-8C= |
| ENST00000638471.1:c.-8C= | ENSP00000491206.1:n.-8C= |