HGVS | Genome Assembly |
---|---|
NC_000014.9:g.22843541T= , CM000676.2:g.22843541T= | GRCh38 |
NC_000014.8:g.23312750T= , CM000676.1:g.23312750T= | GRCh37 |
NC_000014.7:g.22382590T= | NCBI36 |
NG_046989.1:g.12009T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311852.11:c.850+123T= MANE Select | ENSP00000308208.6:n.850+123T= | |
ENST00000548162.2:c.850+123T= | ENSP00000506068.1:n.850+123T= | |
ENST00000680097.1:c.*165+123T= | ENSP00000506631.1:n.*165+123T= | |
ENST00000680941.1:c.*248+123T= | ENSP00000506378.1:n.*248+123T= | |
ENST00000311852.10:c.850+123T= | ENSP00000308208.6:n.850+123T= | |
ENST00000548162.1:n.1092+123T= | ||
NM_004995.3:c.850+123T= | NP_004986.1:n.850+123T= | |
NM_004995.4:c.850+123T= MANE Select | NP_004986.1:n.850+123T= |