Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240877564C= , CM000664.2:g.240877564C= | GRCh38 |
| NC_000002.11:g.241816981C= , CM000664.1:g.241816981C= | GRCh37 |
| NC_000002.10:g.241465654C= | NCBI36 |
| NG_008005.1:g.13820C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.874C= MANE Select | ENSP00000302620.3:p.Arg292= | |
| ENST00000307503.3:c.874C= | ENSP00000302620.3:p.Arg292= | |
| ENST00000470255.1:n.652C= | ||
| NM_000030.2:c.874C= | NP_000021.1:p.Arg292= | |
| NM_000030.3:c.874C= MANE Select | NP_000021.1:p.Arg292= |