Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652468C= , CM000663.2:g.171652468C= | GRCh38 |
| NC_000001.10:g.171621608C= , CM000663.1:g.171621608C= | GRCh37 |
| NC_000001.9:g.169888231C= | NCBI36 |
| NG_008859.1:g.5166G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000261.2:c.144G= MANE Select | NP_000252.1:p.Gln48= |
| ENST00000037502.11:c.144G= MANE Select | ENSP00000037502.5:p.Gln48= |
| NM_000261.1:c.144G= | NP_000252.1:p.Gln48= |
| ENST00000037502.10:c.144G= | ENSP00000037502.5:p.Gln48= |
| ENST00000614688.1:c.144G= | ENSP00000478680.1:p.Gln48= |
| ENST00000638471.1:c.130+14G= | ENSP00000491206.1:n.130+14G= |