HGVS | Genome Assembly |
---|---|
NC_000003.12:g.39265778C>G , CM000665.2:g.39265778C>G | GRCh38 |
NC_000003.11:g.39307269C>G , CM000665.1:g.39307269C>G | GRCh37 |
NC_000003.10:g.39282273C>G | NCBI36 |
NG_016362.1:g.20958G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000399220.3:c.732G>C MANE Select | ENSP00000382166.3:p.Trp244Cys | |
ENST00000358309.3:c.828G>C | ENSP00000351059.3:p.Trp276Cys | |
ENST00000399220.2:c.732G>C | ENSP00000382166.2:p.Trp244Cys | |
ENST00000541347.5:c.732G>C | ENSP00000439140.1:p.Trp244Cys | |
ENST00000542107.5:c.732G>C | ENSP00000444928.1:p.Trp244Cys | |
NM_001171171.1:c.732G>C | NP_001164642.1:p.Trp244Cys | |
NM_001171172.1:c.732G>C | NP_001164643.1:p.Trp244Cys | |
NM_001171174.1:c.828G>C | NP_001164645.1:p.Trp276Cys | |
NM_001337.3:c.732G>C | NP_001328.1:p.Trp244Cys | |
NM_001337.4:c.732G>C MANE Select | NP_001328.1:p.Trp244Cys | |
NM_001171171.2:c.732G>C | NP_001164642.1:p.Trp244Cys | |
NM_001171172.2:c.732G>C | NP_001164643.1:p.Trp244Cys |