HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117807368C>A , CM000670.2:g.117807368C>A | GRCh38 |
NC_000008.10:g.118819607C>A , CM000670.1:g.118819607C>A | GRCh37 |
NC_000008.9:g.118888788C>A | NCBI36 |
NG_007455.2:g.309452G>T , LRG_493:g.309452G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684189.1:n.1199G>T | ||
ENST00000378204.7:c.1732G>T MANE Select | ENSP00000367446.3:p.Ala578Ser | |
ENST00000378204.6:c.1732G>T | ENSP00000367446.2:p.Ala578Ser | |
ENST00000437196.1:c.*623G>T | ENSP00000407299.1:n.*623G>T | |
NM_000127.2:c.1732G>T , LRG_493t1:c.1732G>T | NP_000118.2:p.Ala578Ser | |
NM_000127.3:c.1732G>T MANE Select | NP_000118.2:p.Ala578Ser |