Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240879121T= , CM000664.2:g.240879121T= | GRCh38 |
| NC_000002.11:g.241818538T= , CM000664.1:g.241818538T= | GRCh37 |
| NC_000002.10:g.241467211T= | NCBI36 |
| NG_008005.1:g.15377T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.*300T= MANE Select | ENSP00000302620.3:n.*300T= | |
| ENST00000470255.1:n.1257T= | ||
| NM_000030.3:c.*300T= MANE Select | NP_000021.1:n.*300T= |