HGVS | Genome Assembly |
---|---|
NC_000019.10:g.35850981G>T , CM000681.2:g.35850981G>T | GRCh38 |
NC_000019.9:g.36341883G>T , CM000681.1:g.36341883G>T | GRCh37 |
NC_000019.8:g.41033723G>T | NCBI36 |
NG_013356.2:g.23307C>A , LRG_693:g.23307C>A | |
NG_051206.1:g.4347G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378910.10:c.506C>A MANE Select | ENSP00000368190.4:p.Pro169His | |
ENST00000353632.6:c.506C>A | ENSP00000343634.5:p.Pro169His | |
ENST00000378910.9:c.506C>A | ENSP00000368190.4:p.Pro169His | |
NM_004646.3:c.506C>A , LRG_693t1:c.506C>A | NP_004637.1:p.Pro169His | |
NM_004646.4:c.506C>A MANE Select | NP_004637.1:p.Pro169His |