Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869253C= , CM000664.2:g.240869253C= | GRCh38 |
| NC_000002.11:g.241808670C= , CM000664.1:g.241808670C= | GRCh37 |
| NC_000002.10:g.241457343C= | NCBI36 |
| NG_008005.1:g.5509C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.249C= MANE Select | ENSP00000302620.3:p.His83= | |
| ENST00000307503.3:c.249C= | ENSP00000302620.3:p.His83= | |
| ENST00000472436.1:n.269C= | ||
| NM_000030.2:c.249C= | NP_000021.1:p.His83= | |
| XR_924060.1:n.405+980G= | ||
| NM_000030.3:c.249C= MANE Select | NP_000021.1:p.His83= |