HGVS | Genome Assembly |
---|---|
NC_000007.14:g.155461229A>T , CM000669.2:g.155461229A>T | GRCh38 |
NC_000007.13:g.155253924A>T , CM000669.1:g.155253924A>T | GRCh37 |
NC_000007.12:g.154946685A>T | NCBI36 |
NG_007124.1:g.9510A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297375.4:c.686-1142A>T MANE Select | ENSP00000297375.4:n.686-1142A>T | |
NM_001427.3:c.686-1142A>T | NP_001418.2:n.686-1142A>T | |
NM_001427.4:c.686-1142A>T MANE Select | NP_001418.2:n.686-1142A>T |