HGVS | Genome Assembly |
---|---|
NC_000004.12:g.26490014T>A , CM000666.2:g.26490014T>A | GRCh38 |
NC_000004.11:g.26491636T>A , CM000666.1:g.26491636T>A | GRCh37 |
NC_000004.10:g.26100734T>A | NCBI36 |
NG_012053.1:g.5407A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295589.4:c.112+142A>T MANE Select | ENSP00000295589.3:n.112+142A>T | |
ENST00000295589.3:c.112+142A>T | ENSP00000295589.3:n.112+142A>T | |
NM_000730.2:c.112+142A>T | NP_000721.1:n.112+142A>T | |
NM_000730.3:c.112+142A>T MANE Select | NP_000721.1:n.112+142A>T |