Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135031309G= , CM000667.2:g.135031309G= | GRCh38 |
| NC_000005.9:g.134366999G= , CM000667.1:g.134366999G= | GRCh37 |
| NC_000005.8:g.134394898G= | NCBI36 |
| NG_012114.1:g.7966C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.369C= MANE Select | ENSP00000265340.6:p.Ala123= | |
| ENST00000265340.11:c.369C= | ENSP00000265340.6:p.Ala123= | |
| ENST00000503586.1:c.491C= | ||
| ENST00000504936.1:n.702C= | ||
| ENST00000506438.5:c.369C= | ENSP00000427542.1:p.Ala123= | |
| ENST00000507253.5:c.369C= | ENSP00000422908.1:p.Ala123= | |
| NM_002653.4:c.369C= | NP_002644.4:p.Ala123= | |
| NM_002653.5:c.369C= MANE Select | NP_002644.4:p.Ala123= |