Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981939T= , CM000667.2:g.149981939T= | GRCh38 |
| NC_000005.9:g.149361502T= , CM000667.1:g.149361502T= | GRCh37 |
| NC_000005.8:g.149341695T= | NCBI36 |
| NG_007147.2:g.23057T= , LRG_684:g.23057T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.*126T= MANE Select | ENSP00000286298.4:n.*126T= | |
| ENST00000286298.4:c.*126T= | ENSP00000286298.4:n.*126T= | |
| ENST00000503336.1:c.372+3588T= | ENSP00000426053.1:n.372+3588T= | |
| NM_000112.3:c.*126T= , LRG_684t1:c.*126T= | NP_000103.2:n.*126T= | |
| XM_017009191.2:c.*23T= | XP_016864680.1:n.*23T= | |
| NM_000112.4:c.*126T= MANE Select | NP_000103.2:n.*126T= |