Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980351T>A , CM000667.2:g.149980351T>A | GRCh38 |
| NC_000005.9:g.149359914T>A , CM000667.1:g.149359914T>A | GRCh37 |
| NC_000005.8:g.149340107T>A | NCBI36 |
| NG_007147.2:g.21469T>A , LRG_684:g.21469T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.758T>A MANE Select | ENSP00000286298.4:p.Leu253Gln | |
| ENST00000286298.4:c.758T>A | ENSP00000286298.4:p.Leu253Gln | |
| ENST00000503336.1:c.372+2000T>A | ENSP00000426053.1:n.372+2000T>A | |
| NM_000112.3:c.758T>A , LRG_684t1:c.758T>A | NP_000103.2:p.Leu253Gln | |
| XM_017009191.2:c.758T>A | XP_016864680.1:p.Leu253Gln | |
| NM_000112.4:c.758T>A MANE Select | NP_000103.2:p.Leu253Gln |