Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48966866A= , CM000681.2:g.48966866A= | GRCh38 |
| NC_000019.9:g.49470123A= , CM000681.1:g.49470123A= | GRCh37 |
| NC_000019.8:g.54161935A= | NCBI36 |
| NG_008152.1:g.6558A= | |
| NG_012923.1:g.31488T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000146.4:c.*131A= MANE Select | NP_000137.2:n.*131A= |
| ENST00000331825.11:c.*131A= MANE Select | ENSP00000366525.2:n.*131A= |
| NM_000146.3:c.*131A= | NP_000137.2:n.*131A= |
| ENST00000331825.10:c.*131A= | ENSP00000366525.2:n.*131A= |
| XM_024451447.1:c.1169A= | XP_024307215.1:n.1169A= |