Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91055540T= , CM000674.2:g.91055540T= | GRCh38 |
| NC_000012.11:g.91449317T= , CM000674.1:g.91449317T= | GRCh37 |
| NC_000012.10:g.89973448T= | NCBI36 |
| NG_021223.1:g.7815A= , LRG_538:g.7815A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266719.4:c.742A= MANE Select | ENSP00000266719.3:p.Lys248= | |
| ENST00000266719.3:c.742A= | ENSP00000266719.3:p.Lys248= | |
| NM_007035.3:c.742A= , LRG_538t1:c.742A= | NP_008966.1:p.Lys248= | |
| XM_011537781.1:c.742A= | XP_011536083.1:p.Lys248= | |
| NM_007035.4:c.742A= MANE Select | NP_008966.1:p.Lys248= |