Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624159A= , CM000679.2:g.41624159A= | GRCh38 |
| NC_000017.10:g.39780411A= , CM000679.1:g.39780411A= | GRCh37 |
| NC_000017.9:g.37033937A= | NCBI36 |
| NG_008625.1:g.5472T= | |
| NG_009090.2:g.167554T= , LRG_401:g.167554T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.351T= MANE Select | ENSP00000308452.8:p.Arg117= | |
| ENST00000311208.12:c.351T= | ENSP00000308452.8:p.Arg117= | |
| ENST00000463128.5:c.-265T= | ENSP00000468672.1:n.-265T= | |
| ENST00000491673.1:n.417T= | ||
| ENST00000493253.5:n.138T= | ||
| ENST00000540235.5:c.102T= | ENSP00000441751.2:p.Arg34= | |
| ENST00000577817.3:c.306T= | ENSP00000467418.1:p.Arg102= | |
| NM_000422.2:c.351T= | NP_000413.1:p.Arg117= | |
| NM_000422.3:c.351T= MANE Select | NP_000413.1:p.Arg117= |