HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74919593G>C , CM000679.2:g.74919593G>C | GRCh38 |
NC_000017.10:g.72915688G>C , CM000679.1:g.72915688G>C | GRCh37 |
NC_000017.9:g.70427283G>C | NCBI36 |
NG_007882.1:g.8664C>G | |
NG_033062.1:g.319G>C | |
NG_007882.2:g.8671C>G | |
NG_033062.2:g.319G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614341.5:c.1243C>G MANE Select | ENSP00000480279.1:p.Leu415Val | |
ENST00000579243.1:c.*842C>G | ENSP00000462568.1:n.*842C>G | |
ENST00000614341.4:c.1243C>G | ENSP00000480279.1:p.Leu415Val | |
NM_001282489.2:c.934C>G | NP_001269418.1:p.Leu312Val | |
NM_173477.4:c.1243C>G | NP_775748.2:p.Leu415Val | |
XM_011524296.1:c.934C>G | XP_011522598.1:p.Leu312Val | |
XM_011524296.2:c.934C>G | XP_011522598.1:p.Leu312Val | |
NM_173477.5:c.1243C>G MANE Select | NP_775748.2:p.Leu415Val | |
NM_001282489.3:c.934C>G | NP_001269418.1:p.Leu312Val |