HGVS | Genome Assembly |
---|---|
NC_000010.11:g.113588332G>A , CM000672.2:g.113588332G>A | GRCh38 |
NC_000010.10:g.115348091G>A , CM000672.1:g.115348091G>A | GRCh37 |
NC_000010.9:g.115338081G>A | NCBI36 |
NG_008956.1:g.40314G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351270.4:c.1646G>A MANE Select | ENSP00000277903.4:p.Trp549Ter | |
ENST00000351270.3:c.1646G>A | ENSP00000277903.4:p.Trp549Ter | |
ENST00000542051.5:c.1568G>A | ENSP00000443283.1:p.Trp523Ter | |
NM_001177660.1:c.1568G>A | NP_001171131.1:p.Trp523Ter | |
NM_004132.3:c.1646G>A | NP_004123.1:p.Trp549Ter | |
NM_001177660.2:c.1568G>A | NP_001171131.1:p.Trp523Ter | |
NM_004132.4:c.1646G>A | NP_004123.1:p.Trp549Ter | |
NM_004132.5:c.1646G>A MANE Select | NP_004123.1:p.Trp549Ter | |
NM_001177660.3:c.1568G>A | NP_001171131.1:p.Trp523Ter |