Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72122767G>T , CM000679.2:g.72122767G>T | GRCh38 |
| NC_000017.10:g.70118908G>T , CM000679.1:g.70118908G>T | GRCh37 |
| NC_000017.9:g.67630503G>T | NCBI36 |
| NG_012490.1:g.6748G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.480G>T MANE Select | ENSP00000245479.2:p.Arg160= | |
| ENST00000245479.2:c.480G>T | ENSP00000245479.2:p.Arg160= | |
| NM_000346.3:c.480G>T | NP_000337.1:p.Arg160= | |
| NM_000346.4:c.480G>T MANE Select | NP_000337.1:p.Arg160= |