HGVS | Genome Assembly |
---|---|
NC_000014.9:g.100734220C>A , CM000676.2:g.100734220C>A | GRCh38 |
NC_000014.8:g.101200557C>A , CM000676.1:g.101200557C>A | GRCh37 |
NC_000014.7:g.100270310C>A | NCBI36 |
NG_016863.2:g.12356C>A | |
NG_016863.3:g.12356C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000341267.9:c.476C>A MANE Select | ENSP00000340292.4:p.Pro159His | |
ENST00000331224.10:c.476C>A | ENSP00000331081.6:p.Pro159His | |
ENST00000341267.8:c.476C>A | ENSP00000340292.4:p.Pro159His | |
NM_003836.5:c.476C>A | NP_003827.3:p.Pro159His | |
NM_001317172.1:c.476C>A | NP_001304101.1:p.Pro159His | |
NM_003836.6:c.476C>A | NP_003827.3:p.Pro159His | |
NM_001317172.2:c.476C>A | NP_001304101.2:p.Pro159His | |
NM_003836.7:c.476C>A MANE Select | NP_003827.4:p.Pro159His |