Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878375C= , CM000664.2:g.240878375C= | GRCh38 |
| NC_000002.11:g.241817792C= , CM000664.1:g.241817792C= | GRCh37 |
| NC_000002.10:g.241466465C= | NCBI36 |
| NG_008005.1:g.14631C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.1071+225C= MANE Select | ENSP00000302620.3:n.1071+225C= | |
| ENST00000307503.3:c.1071+225C= | ENSP00000302620.3:n.1071+225C= | |
| ENST00000470255.1:n.849+225C= | ||
| NM_000030.2:c.1071+225C= | NP_000021.1:n.1071+225C= | |
| NM_000030.3:c.1071+225C= MANE Select | NP_000021.1:n.1071+225C= |