HGVS | Genome Assembly |
---|---|
NC_000008.11:g.1296055T>C , CM000670.2:g.1296055T>C | GRCh38 |
NC_000008.10:g.1244315T>C , CM000670.1:g.1244315T>C | GRCh37 |
NC_000008.9:g.1231722T>C | NCBI36 |
NG_009409.2:g.563337T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000421627.7:c.103+37172T>C | ENSP00000400258.3:n.103+37172T>C | |
ENST00000637795.2:c.106+37172T>C MANE Select | ENSP00000489774.1:n.106+37172T>C | |
NR_111948.1:n.3028A>G | ||
XM_011534761.1:c.-135+37172T>C | XP_011533063.1:n.-135+37172T>C | |
XM_011534762.1:c.-135+37172T>C | XP_011533064.1:n.-135+37172T>C | |
NM_001346810.1:c.106+37172T>C | NP_001333739.1:n.106+37172T>C | |
NM_001346810.2:c.106+37172T>C MANE Select | NP_001333739.1:n.106+37172T>C |