Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33438763T= , CM000682.2:g.33438763T= | GRCh38 |
| NC_000020.10:g.32026569T= , CM000682.1:g.32026569T= | GRCh37 |
| NC_000020.9:g.31490230T= | NCBI36 |
| NG_011622.1:g.10130A= , LRG_332:g.10130A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.496+78A= MANE Select | ENSP00000217381.2:n.496+78A= | |
| ENST00000217381.2:c.496+78A= | ENSP00000217381.2:n.496+78A= | |
| NM_003098.2:c.496+78A= , LRG_332t1:c.496+78A= | NP_003089.1:n.496+78A= | |
| XM_005260517.1:c.496+78A= | XP_005260574.1:n.496+78A= | |
| XM_011529007.1:c.496+78A= | XP_011527309.1:n.496+78A= | |
| XM_011529008.1:c.496+78A= | XP_011527310.1:n.496+78A= | |
| XR_936612.1:n.729+78A= | ||
| XM_024451971.1:c.169+78A= | XP_024307739.1:n.169+78A= | |
| NM_003098.3:c.496+78A= MANE Select | NP_003089.1:n.496+78A= |