Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978285A= , CM000667.2:g.149978285A= | GRCh38 |
| NC_000005.9:g.149357848A= , CM000667.1:g.149357848A= | GRCh37 |
| NC_000005.8:g.149338041A= | NCBI36 |
| NG_007147.2:g.19403A= , LRG_684:g.19403A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.865A= | ||
| ENST00000286298.5:c.633A= MANE Select | ENSP00000286298.4:p.Ile211= | |
| ENST00000286298.4:c.633A= | ENSP00000286298.4:p.Ile211= | |
| ENST00000503336.1:c.306A= | ENSP00000426053.1:p.Ile102= | |
| NM_000112.3:c.633A= , LRG_684t1:c.633A= | NP_000103.2:p.Ile211= | |
| XM_017009191.2:c.633A= | XP_016864680.1:p.Ile211= | |
| NM_000112.4:c.633A= MANE Select | NP_000103.2:p.Ile211= |