Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981861A= , CM000667.2:g.149981861A= | GRCh38 |
| NC_000005.9:g.149361424A= , CM000667.1:g.149361424A= | GRCh37 |
| NC_000005.8:g.149341617A= | NCBI36 |
| NG_007147.2:g.22979A= , LRG_684:g.22979A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.*48A= MANE Select | ENSP00000286298.4:n.*48A= | |
| ENST00000286298.4:c.*48A= | ENSP00000286298.4:n.*48A= | |
| ENST00000503336.1:c.372+3510A= | ENSP00000426053.1:n.372+3510A= | |
| NM_000112.3:c.*48A= , LRG_684t1:c.*48A= | NP_000103.2:n.*48A= | |
| XM_017009191.2:c.*12+36A= | XP_016864680.1:n.*12+36A= | |
| NM_000112.4:c.*48A= MANE Select | NP_000103.2:n.*48A= |