Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135031369C>T , CM000667.2:g.135031369C>T | GRCh38 |
| NC_000005.9:g.134367059C>T , CM000667.1:g.134367059C>T | GRCh37 |
| NC_000005.8:g.134394958C>T | NCBI36 |
| NG_012114.1:g.7906G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.309G>A MANE Select | ENSP00000265340.6:p.Glu103= | |
| ENST00000265340.11:c.309G>A | ENSP00000265340.6:p.Glu103= | |
| ENST00000502676.1:c.309G>A | ENSP00000423624.1:p.Glu103= | |
| ENST00000503586.1:c.431G>A | ||
| ENST00000504936.1:n.642G>A | ||
| ENST00000506438.5:c.309G>A | ENSP00000427542.1:p.Glu103= | |
| ENST00000507253.5:c.309G>A | ENSP00000422908.1:p.Glu103= | |
| NM_002653.4:c.309G>A | NP_002644.4:p.Glu103= | |
| NM_002653.5:c.309G>A MANE Select | NP_002644.4:p.Glu103= |