HGVS | Genome Assembly |
---|---|
NC_000008.11:g.118110104C>A , CM000670.2:g.118110104C>A | GRCh38 |
NC_000008.10:g.119122343C>A , CM000670.1:g.119122343C>A | GRCh37 |
NC_000008.9:g.119191524C>A | NCBI36 |
NG_007455.2:g.6716G>T , LRG_493:g.6716G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378204.7:c.943G>T MANE Select | ENSP00000367446.3:p.Asp315Tyr | |
ENST00000436216.2:c.311G>T | ||
ENST00000378204.6:c.943G>T | ENSP00000367446.2:p.Asp315Tyr | |
ENST00000436216.1:c.311G>T | ||
ENST00000437196.1:c.73+870G>T | ENSP00000407299.1:n.73+870G>T | |
NM_000127.2:c.943G>T , LRG_493t1:c.943G>T | NP_000118.2:p.Asp315Tyr | |
NM_000127.3:c.943G>T MANE Select | NP_000118.2:p.Asp315Tyr |