Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.176881994G>A , CM000667.2:g.176881994G>A | GRCh38 |
| NC_000005.9:g.176308995G>A , CM000667.1:g.176308995G>A | GRCh37 |
| NC_000005.8:g.176241601G>A | NCBI36 |
| NG_047006.1:g.22380C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292432.10:c.2187C>T MANE Select | ENSP00000292432.5:p.Thr729= | |
| ENST00000292432.9:c.2187C>T | ENSP00000292432.5:p.Thr729= | |
| ENST00000506834.5:n.1199C>T | ||
| ENST00000514058.1:c.357C>T | ENSP00000424632.1:p.Thr119= | |
| NM_002115.2:c.2187C>T | NP_002106.2:p.Thr729= | |
| XR_941101.1:n.2320C>T | ||
| XM_017009411.1:c.2016C>T | XP_016864900.1:p.Thr672= | |
| NM_002115.3:c.2187C>T MANE Select | NP_002106.2:p.Thr729= |