HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74919889A>G , CM000679.2:g.74919889A>G | GRCh38 |
NC_000017.10:g.72915984A>G , CM000679.1:g.72915984A>G | GRCh37 |
NC_000017.9:g.70427579A>G | NCBI36 |
NG_007882.1:g.8368T>C | |
NG_033062.1:g.615A>G | |
NG_007882.2:g.8375T>C | |
NG_033062.2:g.615A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000614341.5:c.947T>C MANE Select | ENSP00000480279.1:p.Val316Ala | |
ENST00000579243.1:c.*546T>C | ENSP00000462568.1:n.*546T>C | |
ENST00000614341.4:c.947T>C | ENSP00000480279.1:p.Val316Ala | |
NM_001282489.2:c.638T>C | NP_001269418.1:p.Val213Ala | |
NM_173477.4:c.947T>C | NP_775748.2:p.Val316Ala | |
XM_011524296.1:c.638T>C | XP_011522598.1:p.Val213Ala | |
XM_011524296.2:c.638T>C | XP_011522598.1:p.Val213Ala | |
NM_173477.5:c.947T>C MANE Select | NP_775748.2:p.Val316Ala | |
NM_001282489.3:c.638T>C | NP_001269418.1:p.Val213Ala |