HGVS | Genome Assembly |
---|---|
NC_000014.9:g.22843315T>C , CM000676.2:g.22843315T>C | GRCh38 |
NC_000014.8:g.23312524T>C , CM000676.1:g.23312524T>C | GRCh37 |
NC_000014.7:g.22382364T>C | NCBI36 |
NG_046989.1:g.11783T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311852.11:c.747T>C MANE Select | ENSP00000308208.6:p.His249= | |
ENST00000548162.2:c.747T>C | ENSP00000506068.1:p.His249= | |
ENST00000680097.1:c.*62T>C | ENSP00000506631.1:n.*62T>C | |
ENST00000680941.1:c.*145T>C | ENSP00000506378.1:n.*145T>C | |
ENST00000311852.10:c.747T>C | ENSP00000308208.6:p.His249= | |
ENST00000548162.1:n.989T>C | ||
NM_004995.3:c.747T>C | NP_004986.1:p.His249= | |
NM_004995.4:c.747T>C MANE Select | NP_004986.1:p.His249= |