Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.108561748G>A , CM000668.2:g.108561748G>A | GRCh38 |
| NC_000006.11:g.108882951G>A , CM000668.1:g.108882951G>A | GRCh37 |
| NC_000006.10:g.108989644G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406360.2:c.540G>A MANE Select | ENSP00000385824.1:p.Leu180= | |
| ENST00000343882.10:c.540G>A | ENSP00000339527.6:p.Leu180= | |
| ENST00000406360.1:c.540G>A | ENSP00000385824.1:p.Leu180= | |
| NM_001455.3:c.540G>A | NP_001446.1:p.Leu180= | |
| NM_201559.2:c.540G>A | NP_963853.1:p.Leu180= | |
| XM_005266867.3:c.-145G>A | XP_005266924.1:n.-145G>A | |
| NM_001455.4:c.540G>A MANE Select | NP_001446.1:p.Leu180= | |
| NM_201559.3:c.540G>A | NP_963853.1:p.Leu180= |