Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38074949G= , CM000664.2:g.38074949G= | GRCh38 |
| NC_000002.11:g.38302092G= , CM000664.1:g.38302092G= | GRCh37 |
| NC_000002.10:g.38155596G= | NCBI36 |
| NG_008386.2:g.6153C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.440C= | ENSP00000478839.2:p.Ala147= | |
| ENST00000610745.5:c.440C= MANE Select | ENSP00000478561.1:p.Ala147= | |
| ENST00000494864.1:c.-70-3639C= | ENSP00000479876.1:n.-70-3639C= | |
| ENST00000610745.4:c.440C= | ENSP00000478561.1:p.Ala147= | |
| ENST00000613082.1:n.376-541C= | ||
| ENST00000614273.1:c.440C= | ENSP00000483678.1:p.Ala147= | |
| NM_000104.3:c.440C= | NP_000095.2:p.Ala147= | |
| NM_000104.4:c.440C= MANE Select | NP_000095.2:p.Ala147= |