Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66781148G>A , CM000677.2:g.66781148G>A | GRCh38 |
| NC_000015.9:g.67073486G>A , CM000677.1:g.67073486G>A | GRCh37 |
| NC_000015.8:g.64860540G>A | NCBI36 |
| NG_012244.1:g.83813G>A | |
| NG_012244.2:g.83813G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.1104G>A MANE Select | ENSP00000288840.5:p.Leu368= | |
| ENST00000288840.9:c.1104G>A | ENSP00000288840.5:p.Leu368= | |
| ENST00000557916.5:c.1236G>A | ENSP00000452955.1:n.1236G>A | |
| ENST00000559931.5:c.408G>A | ENSP00000453446.1:n.408G>A | |
| NM_005585.4:c.1104G>A | NP_005576.3:p.Leu368= | |
| NR_027654.1:n.2159G>A | ||
| XM_011521561.1:c.321G>A | XP_011519863.1:p.Leu107= | |
| XR_931825.1:n.2503G>A | ||
| XM_011521561.2:c.321G>A | XP_011519863.1:p.Leu107= | |
| NM_005585.5:c.1104G>A MANE Select | NP_005576.3:p.Leu368= | |
| NR_027654.2:n.2259G>A |