Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147908483G>T , CM000663.2:g.147908483G>T | GRCh38 |
| NC_000001.10:g.147380610G>T , CM000663.1:g.147380610G>T | GRCh37 |
| NC_000001.9:g.145847234G>T | NCBI36 |
| NG_016242.1:g.10665G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005267.5:c.528G>T MANE Select | NP_005258.2:p.Arg176= |
| ENST00000369235.2:c.528G>T MANE Select | ENSP00000358238.1:p.Arg176= |
| NM_005267.4:c.528G>T | NP_005258.2:p.Arg176= |
| ENST00000369235.1:c.528G>T | ENSP00000358238.1:p.Arg176= |
| XM_011509416.1:c.528G>T | XP_011507718.1:p.Arg176= |
| XM_011509417.1:c.528G>T | XP_011507719.1:p.Arg176= |
| XM_011509417.2:c.528G>T | XP_011507719.1:p.Arg176= |
| XR_002956281.1:n.1443G>T |