Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240879072A= , CM000664.2:g.240879072A= | GRCh38 |
| NC_000002.11:g.241818489A= , CM000664.1:g.241818489A= | GRCh37 |
| NC_000002.10:g.241467162A= | NCBI36 |
| NG_008005.1:g.15328A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.*251A= MANE Select | ENSP00000302620.3:n.*251A= | |
| ENST00000307503.3:c.*251A= | ENSP00000302620.3:n.*251A= | |
| ENST00000470255.1:n.1208A= | ||
| NM_000030.2:c.*251A= | NP_000021.1:n.*251A= | |
| NM_000030.3:c.*251A= MANE Select | NP_000021.1:n.*251A= |