Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240879095T= , CM000664.2:g.240879095T= | GRCh38 |
| NC_000002.11:g.241818512T= , CM000664.1:g.241818512T= | GRCh37 |
| NC_000002.10:g.241467185T= | NCBI36 |
| NG_008005.1:g.15351T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.*274T= MANE Select | ENSP00000302620.3:n.*274T= | |
| ENST00000307503.3:c.*274T= | ENSP00000302620.3:n.*274T= | |
| ENST00000470255.1:n.1231T= | ||
| NM_000030.2:c.*274T= | NP_000021.1:n.*274T= | |
| NM_000030.3:c.*274T= MANE Select | NP_000021.1:n.*274T= |