HGVS | Genome Assembly |
---|---|
NC_000005.10:g.35873593G>C , CM000667.2:g.35873593G>C | GRCh38 |
NC_000005.9:g.35873695G>C , CM000667.1:g.35873695G>C | GRCh37 |
NC_000005.8:g.35909452G>C | NCBI36 |
NG_009567.1:g.21705G>C , LRG_74:g.21705G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303115.8:c.651G>C MANE Select | ENSP00000306157.3:p.Trp217Cys | |
ENST00000303115.7:c.651G>C | ENSP00000306157.3:p.Trp217Cys | |
ENST00000505093.1:c.60G>C | ENSP00000426069.1:p.Trp20Cys | |
ENST00000506850.5:c.651G>C | ENSP00000421207.1:p.Trp217Cys | |
ENST00000509668.1:n.393G>C | ||
ENST00000514217.5:c.538-1919G>C | ENSP00000427688.1:n.538-1919G>C | |
NM_002185.3:c.651G>C | NP_002176.2:p.Trp217Cys | |
NR_120485.1:n.641-1919G>C | ||
XM_005248299.2:c.651G>C | XP_005248356.1:p.Trp217Cys | |
XM_005248300.1:c.651G>C | XP_005248357.1:p.Trp217Cys | |
XM_011514037.1:c.651G>C | XP_011512339.1:p.Trp217Cys | |
NM_002185.4:c.651G>C | NP_002176.2:p.Trp217Cys | |
NR_120485.2:n.667-1919G>C | ||
XM_005248299.4:c.651G>C | XP_005248356.1:p.Trp217Cys | |
NM_002185.5:c.651G>C MANE Select | NP_002176.2:p.Trp217Cys | |
NR_120485.3:n.625-1919G>C |