HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74919592A>G , CM000679.2:g.74919592A>G | GRCh38 |
NC_000017.10:g.72915687A>G , CM000679.1:g.72915687A>G | GRCh37 |
NC_000017.9:g.70427282A>G | NCBI36 |
NG_007882.1:g.8665T>C | |
NG_033062.1:g.318A>G | |
NG_007882.2:g.8672T>C | |
NG_033062.2:g.318A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614341.5:c.1244T>C MANE Select | ENSP00000480279.1:p.Leu415Pro | |
ENST00000579243.1:c.*843T>C | ENSP00000462568.1:n.*843T>C | |
ENST00000614341.4:c.1244T>C | ENSP00000480279.1:p.Leu415Pro | |
NM_001282489.2:c.935T>C | NP_001269418.1:p.Leu312Pro | |
NM_173477.4:c.1244T>C | NP_775748.2:p.Leu415Pro | |
XM_011524296.1:c.935T>C | XP_011522598.1:p.Leu312Pro | |
XM_011524296.2:c.935T>C | XP_011522598.1:p.Leu312Pro | |
NM_173477.5:c.1244T>C MANE Select | NP_775748.2:p.Leu415Pro | |
NM_001282489.3:c.935T>C | NP_001269418.1:p.Leu312Pro |