HGVS | Genome Assembly |
---|---|
NC_000007.14:g.73442728A>C , CM000669.2:g.73442728A>C | GRCh38 |
NC_000007.13:g.72857058A>C , CM000669.1:g.72857058A>C | GRCh37 |
NC_000007.12:g.72494994A>C | NCBI36 |
NG_027679.1:g.84558T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000339594.9:c.4091T>G MANE Select | ENSP00000342434.4:p.Phe1364Cys | |
ENST00000339594.8:c.4091T>G | ENSP00000342434.4:p.Phe1364Cys | |
ENST00000404251.1:c.4091T>G | ENSP00000385442.1:p.Phe1364Cys | |
NM_032408.3:c.4091T>G | NP_115784.1:p.Phe1364Cys | |
XM_017012773.2:c.4091T>G | XP_016868262.1:p.Phe1364Cys | |
NM_032408.4:c.4091T>G MANE Select | NP_115784.1:p.Phe1364Cys | |
NM_001370402.1:c.4091T>G | NP_001357331.1:p.Phe1364Cys |