HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87713178T>C , CM000672.2:g.87713178T>C | GRCh38 |
NC_000010.10:g.89472935T>C , CM000672.1:g.89472935T>C | GRCh37 |
NC_000010.9:g.89462915T>C | NCBI36 |
NG_012150.1:g.58460T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000456849.2:c.249T>C MANE Select | ENSP00000406157.1:p.His83= | |
ENST00000361175.8:c.249T>C | ENSP00000354436.4:p.His83= | |
ENST00000456849.1:c.249T>C | ENSP00000406157.1:p.His83= | |
ENST00000465996.5:n.271T>C | ||
ENST00000482258.1:n.292T>C | ||
NM_001015880.1:c.249T>C | NP_001015880.1:p.His83= | |
NM_004670.3:c.249T>C | NP_004661.2:p.His83= | |
NM_001015880.2:c.249T>C MANE Select | NP_001015880.1:p.His83= | |
NM_004670.4:c.249T>C | NP_004661.2:p.His83= |