HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117837154G>T , CM000670.2:g.117837154G>T | GRCh38 |
NC_000008.10:g.118849393G>T , CM000670.1:g.118849393G>T | GRCh37 |
NC_000008.9:g.118918574G>T | NCBI36 |
NG_007455.2:g.279666C>A , LRG_493:g.279666C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684189.1:n.477C>A | ||
ENST00000378204.7:c.1010C>A MANE Select | ENSP00000367446.3:p.Pro337His | |
ENST00000436216.2:c.378C>A | ||
ENST00000378204.6:c.1010C>A | ENSP00000367446.2:p.Pro337His | |
ENST00000436216.1:c.378C>A | ||
ENST00000437196.1:c.74-1603C>A | ENSP00000407299.1:n.74-1603C>A | |
NM_000127.2:c.1010C>A , LRG_493t1:c.1010C>A | NP_000118.2:p.Pro337His | |
NM_000127.3:c.1010C>A MANE Select | NP_000118.2:p.Pro337His |