Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240874004C= , CM000664.2:g.240874004C= | GRCh38 |
| NC_000002.11:g.241813421C= , CM000664.1:g.241813421C= | GRCh37 |
| NC_000002.10:g.241462094C= | NCBI36 |
| NG_008005.1:g.10260C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.622C= MANE Select | ENSP00000302620.3:p.Gln208= | |
| ENST00000307503.3:c.622C= | ENSP00000302620.3:p.Gln208= | |
| ENST00000476698.1:n.332+955C= | ||
| NM_000030.2:c.622C= | NP_000021.1:p.Gln208= | |
| NM_000030.3:c.622C= MANE Select | NP_000021.1:p.Gln208= |