Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225482T= , CM000673.2:g.5225482T= | GRCh38 |
| NC_000011.9:g.5246712T= , CM000673.1:g.5246712T= | GRCh37 |
| NC_000011.8:g.5203288T= | NCBI36 |
| NG_000007.3:g.72134A= | |
| NG_059281.1:g.6590A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.*116A= | ENSP00000494175.1:n.*116A= | |
| ENST00000335295.4:c.*116A= MANE Select | ENSP00000333994.3:n.*116A= | |
| ENST00000633227.1:c.*376A= | ENSP00000488004.1:n.*376A= | |
| NM_000518.4:c.*116A= | NP_000509.1:n.*116A= | |
| NM_000518.5:c.*116A= MANE Select | NP_000509.1:n.*116A= |