HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74919886A>C , CM000679.2:g.74919886A>C | GRCh38 |
NC_000017.10:g.72915981A>C , CM000679.1:g.72915981A>C | GRCh37 |
NC_000017.9:g.70427576A>C | NCBI36 |
NG_007882.1:g.8371T>G | |
NG_033062.1:g.612A>C | |
NG_007882.2:g.8378T>G | |
NG_033062.2:g.612A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614341.5:c.950T>G MANE Select | ENSP00000480279.1:p.Phe317Cys | |
ENST00000579243.1:c.*549T>G | ENSP00000462568.1:n.*549T>G | |
ENST00000614341.4:c.950T>G | ENSP00000480279.1:p.Phe317Cys | |
NM_001282489.2:c.641T>G | NP_001269418.1:p.Phe214Cys | |
NM_173477.4:c.950T>G | NP_775748.2:p.Phe317Cys | |
XM_011524296.1:c.641T>G | XP_011522598.1:p.Phe214Cys | |
XM_011524296.2:c.641T>G | XP_011522598.1:p.Phe214Cys | |
NM_173477.5:c.950T>G MANE Select | NP_775748.2:p.Phe317Cys | |
NM_001282489.3:c.641T>G | NP_001269418.1:p.Phe214Cys |