HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12790415A>T , CM000686.2:g.12790415A>T | GRCh38 |
NC_000024.9:g.14902348A>T , CM000686.1:g.14902348A>T | GRCh37 |
NC_000024.8:g.13411742A>T | NCBI36 |
NG_008311.1:g.94189A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000651177.1:c.3570A>T | ENSP00000498372.1:p.Gln1190His | |
ENST00000338981.7:c.3570A>T MANE Select | ENSP00000342812.3:p.Gln1190His | |
ENST00000426564.6:n.3582A>T | ||
NM_004654.3:c.3570A>T | NP_004645.2:p.Gln1190His | |
XM_011531469.1:c.3570A>T | XP_011529771.1:p.Gln1190His | |
XM_011531470.1:c.3336A>T | XP_011529772.1:p.Gln1112His | |
XM_017030078.2:c.3585A>T | XP_016885567.1:p.Gln1195His | |
NM_004654.4:c.3570A>T MANE Select | NP_004645.2:p.Gln1190His |