HGVS | Genome Assembly |
---|---|
NC_000014.9:g.50130502A>G , CM000676.2:g.50130502A>G | GRCh38 |
NC_000014.8:g.50597220A>G , CM000676.1:g.50597220A>G | GRCh37 |
NC_000014.7:g.49666970A>G | NCBI36 |
NG_051073.1:g.106192T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000216373.10:c.3336T>C MANE Select | ENSP00000216373.5:p.Cys1112= | |
ENST00000216373.9:c.3336T>C | ENSP00000216373.5:p.Cys1112= | |
ENST00000543680.5:c.3237T>C | ENSP00000445328.1:p.Cys1079= | |
NM_006939.2:c.3336T>C | NP_008870.2:p.Cys1112= | |
XM_005268021.1:c.3156T>C | XP_005268078.1:p.Cys1052= | |
XM_011537103.1:c.3297T>C | XP_011535405.1:p.Cys1099= | |
NM_006939.3:c.3336T>C | NP_008870.2:p.Cys1112= | |
NM_006939.4:c.3336T>C MANE Select | NP_008870.2:p.Cys1112= |