HGVS | Genome Assembly |
---|---|
NC_000008.11:g.10622750G>T , CM000670.2:g.10622750G>T | GRCh38 |
NC_000008.10:g.10480260G>T , CM000670.1:g.10480260G>T | GRCh37 |
NC_000008.9:g.10517670G>T | NCBI36 |
NG_028035.1:g.37358C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382483.4:c.452C>A MANE Select | ENSP00000371923.3:p.Pro151His | |
ENST00000329335.3:n.702C>A | ||
ENST00000382483.3:c.452C>A | ENSP00000371923.3:p.Pro151His | |
NM_178857.5:c.452C>A | NP_849188.4:p.Pro151His | |
NM_178857.6:c.452C>A MANE Select | NP_849188.4:p.Pro151His |