HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48459725T>G , CM000675.2:g.48459725T>G | GRCh38 |
NC_000013.10:g.49033861T>G , CM000675.1:g.49033861T>G | GRCh37 |
NC_000013.9:g.47931862T>G | NCBI36 |
NG_009009.1:g.160979T>G , LRG_517:g.160979T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.1998T>G MANE Select | ENSP00000267163.4:p.Cys666Trp | |
ENST00000643064.1:c.194+78282T>G | ||
ENST00000650461.1:c.1998T>G | ENSP00000497193.1:p.Cys666Trp | |
ENST00000267163.4:c.1998T>G | ENSP00000267163.4:p.Cys666Trp | |
NM_000321.2:c.1998T>G , LRG_517t1:c.1998T>G | NP_000312.2:p.Cys666Trp | |
XM_011535171.1:c.1737T>G | XP_011533473.1:p.Cys579Trp | |
XM_011535171.2:c.1737T>G | XP_011533473.1:p.Cys579Trp | |
NM_000321.3:c.1998T>G MANE Select | NP_000312.2:p.Cys666Trp |