Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.142097722G= , CM000664.2:g.142097722G= | GRCh38 |
| NC_000002.11:g.142855291G= , CM000664.1:g.142855291G= | GRCh37 |
| NC_000002.10:g.142571761G= | NCBI36 |
| NG_051023.1:g.39742C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018557.3:c.82+32926C= MANE Select | NP_061027.2:n.82+32926C= |
| ENST00000389484.8:c.82+32926C= MANE Select | ENSP00000374135.3:n.82+32926C= |
| NM_018557.2:c.82+32926C= | NP_061027.2:n.82+32926C= |
| ENST00000389484.7:c.82+32926C= | ENSP00000374135.3:n.82+32926C= |
| ENST00000434794.1:c.82+32926C= | ENSP00000413239.1:n.82+32926C= |
| XM_011511352.1:c.193+32926C= | XP_011509654.1:n.193+32926C= |
| XM_017004341.1:c.-309+11138C= | XP_016859830.1:n.-309+11138C= |
| XR_001738778.1:n.1816+32926C= |