Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873920T= , CM000664.2:g.240873920T= | GRCh38 |
| NC_000002.11:g.241813337T= , CM000664.1:g.241813337T= | GRCh37 |
| NC_000002.10:g.241462010T= | NCBI36 |
| NG_008005.1:g.10176T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.596-58T= MANE Select | ENSP00000302620.3:n.596-58T= | |
| ENST00000307503.3:c.596-58T= | ENSP00000302620.3:n.596-58T= | |
| ENST00000476698.1:n.332+871T= | ||
| NM_000030.2:c.596-58T= | NP_000021.1:n.596-58T= | |
| NM_000030.3:c.596-58T= MANE Select | NP_000021.1:n.596-58T= |