Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873923A= , CM000664.2:g.240873923A= | GRCh38 |
| NC_000002.11:g.241813340A= , CM000664.1:g.241813340A= | GRCh37 |
| NC_000002.10:g.241462013A= | NCBI36 |
| NG_008005.1:g.10179A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.596-55A= MANE Select | ENSP00000302620.3:n.596-55A= | |
| ENST00000307503.3:c.596-55A= | ENSP00000302620.3:n.596-55A= | |
| ENST00000476698.1:n.332+874A= | ||
| NM_000030.2:c.596-55A= | NP_000021.1:n.596-55A= | |
| NM_000030.3:c.596-55A= MANE Select | NP_000021.1:n.596-55A= |