Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852841T>A , CM000674.2:g.102852841T>A | GRCh38 |
| NC_000012.11:g.103246619T>A , CM000674.1:g.103246619T>A | GRCh37 |
| NC_000012.10:g.101770749T>A | NCBI36 |
| NG_008690.1:g.69762A>T | |
| NG_008690.2:g.110570A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.816A>T MANE Select | ENSP00000448059.1:p.Gly272= | |
| ENST00000307000.7:c.801A>T | ENSP00000303500.2:p.Gly267= | |
| ENST00000549247.6:n.575A>T | ||
| ENST00000553106.5:c.816A>T | ENSP00000448059.1:p.Gly272= | |
| NM_000277.1:c.816A>T | NP_000268.1:p.Gly272= | |
| XM_011538422.1:c.816A>T | XP_011536724.1:p.Gly272= | |
| NM_000277.2:c.816A>T | NP_000268.1:p.Gly272= | |
| NM_001354304.1:c.816A>T | NP_001341233.1:p.Gly272= | |
| NM_000277.3:c.816A>T MANE Select | NP_000268.1:p.Gly272= | |
| NM_001354304.2:c.816A>T | NP_001341233.1:p.Gly272= |