HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57565366T>C , CM000682.2:g.57565366T>C | GRCh38 |
NC_000020.10:g.56140422T>C , CM000682.1:g.56140422T>C | GRCh37 |
NC_000020.9:g.55573828T>C | NCBI36 |
NG_008205.1:g.9286T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000319441.6:c.1431T>C MANE Select | ENSP00000319814.4:p.His477= | |
ENST00000319441.5:c.1431T>C | ENSP00000319814.4:p.His477= | |
ENST00000467047.1:n.4073T>C | ||
ENST00000485958.1:n.555T>C | ||
NM_002591.3:c.1431T>C | NP_002582.3:p.His477= | |
XM_011528839.1:c.1035T>C | XP_011527141.1:p.His345= | |
XM_024451888.1:c.1035T>C | XP_024307656.1:p.His345= | |
NM_002591.4:c.1431T>C MANE Select | NP_002582.3:p.His477= |