Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652633C= , CM000663.2:g.171652633C= | GRCh38 |
| NC_000001.10:g.171621773C= , CM000663.1:g.171621773C= | GRCh37 |
| NC_000001.9:g.169888396C= | NCBI36 |
| NG_008859.1:g.5001G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.-22G= MANE Select | ENSP00000037502.5:n.-22G= | |
| ENST00000037502.10:c.-22G= | ENSP00000037502.5:n.-22G= | |
| ENST00000614688.1:c.-22G= | ENSP00000478680.1:n.-22G= | |
| NM_000261.1:c.-22G= | NP_000252.1:n.-22G= | |
| NM_000261.2:c.-22G= MANE Select | NP_000252.1:n.-22G= |