HGVS | Genome Assembly |
---|---|
NC_000014.9:g.36663119C>A , CM000676.2:g.36663119C>A | GRCh38 |
NC_000014.8:g.37132324C>A , CM000676.1:g.37132324C>A | GRCh37 |
NC_000014.7:g.36202075C>A | NCBI36 |
NG_013357.1:g.10552C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361487.7:c.227C>A MANE Select | ENSP00000355245.6:p.Pro76His | |
ENST00000555639.2:c.227C>A | ENSP00000501203.1:p.Pro76His | |
ENST00000361487.6:c.227C>A | ENSP00000355245.6:p.Pro76His | |
ENST00000402703.6:c.227C>A | ENSP00000384817.2:p.Pro76His | |
ENST00000554201.1:c.-335C>A | ENSP00000450434.1:n.-335C>A | |
ENST00000555639.1:n.529C>A | ||
NM_006194.3:c.227C>A | NP_006185.1:p.Pro76His | |
NM_001372076.1:c.227C>A MANE Select | NP_001359005.1:p.Pro76His | |
NM_006194.4:c.227C>A | NP_006185.1:p.Pro76His |