HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74919586G>A , CM000679.2:g.74919586G>A | GRCh38 |
NC_000017.10:g.72915681G>A , CM000679.1:g.72915681G>A | GRCh37 |
NC_000017.9:g.70427276G>A | NCBI36 |
NG_007882.1:g.8671C>T | |
NG_033062.1:g.312G>A | |
NG_007882.2:g.8678C>T | |
NG_033062.2:g.312G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614341.5:c.1250C>T MANE Select | ENSP00000480279.1:p.Ala417Val | |
ENST00000579243.1:c.*849C>T | ENSP00000462568.1:n.*849C>T | |
ENST00000614341.4:c.1250C>T | ENSP00000480279.1:p.Ala417Val | |
NM_001282489.2:c.941C>T | NP_001269418.1:p.Ala314Val | |
NM_173477.4:c.1250C>T | NP_775748.2:p.Ala417Val | |
XM_011524296.1:c.941C>T | XP_011522598.1:p.Ala314Val | |
XM_011524296.2:c.941C>T | XP_011522598.1:p.Ala314Val | |
NM_173477.5:c.1250C>T MANE Select | NP_775748.2:p.Ala417Val | |
NM_001282489.3:c.941C>T | NP_001269418.1:p.Ala314Val |