Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116882393A= , CM000668.2:g.116882393A= | GRCh38 |
| NC_000006.11:g.117203556A= , CM000668.1:g.117203556A= | GRCh37 |
| NC_000006.10:g.117310249A= | NCBI36 |
| NG_027699.1:g.10181A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332958.3:c.531A= MANE Select | ENSP00000332208.2:p.Leu177= | |
| ENST00000332958.2:c.531A= | ENSP00000332208.2:p.Leu177= | |
| ENST00000487683.5:n.595A= | ||
| NM_173560.3:c.531A= | NP_775831.2:p.Leu177= | |
| XM_011535589.1:c.531A= | XP_011533891.1:p.Leu177= | |
| XM_017010477.1:c.153A= | XP_016865966.1:p.Leu51= | |
| NM_173560.4:c.531A= MANE Select | NP_775831.2:p.Leu177= |