HGVS | Genome Assembly |
---|---|
NC_000014.9:g.60975668A>T , CM000676.2:g.60975668A>T | GRCh38 |
NC_000014.8:g.61442386A>T , CM000676.1:g.61442386A>T | GRCh37 |
NC_000014.7:g.60512139A>T | NCBI36 |
NG_053119.1:g.11023T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261249.7:c.1251T>A MANE Select | ENSP00000261249.6:p.His417Gln | |
ENST00000261249.6:c.1251T>A | ENSP00000261249.6:p.His417Gln | |
NM_020810.3:c.1251T>A MANE Select | NP_065861.3:p.His417Gln | |
XM_005267916.2:c.1335T>A | XP_005267973.2:p.His445Gln | |
XM_011537017.1:c.1332T>A | XP_011535319.1:p.His444Gln | |
NM_001350253.1:c.1335T>A | NP_001337182.1:p.His445Gln | |
NM_001350254.1:c.1332T>A | NP_001337183.1:p.His444Gln |