HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74920095C>T , CM000679.2:g.74920095C>T | GRCh38 |
NC_000017.10:g.72916190C>T , CM000679.1:g.72916190C>T | GRCh37 |
NC_000017.9:g.70427785C>T | NCBI36 |
NG_007882.1:g.8162G>A | |
NG_033062.1:g.821C>T | |
NG_007882.2:g.8169G>A | |
NG_033062.2:g.821C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614341.5:c.741G>A MANE Select | ENSP00000480279.1:p.Leu247= | |
ENST00000579243.1:c.*340G>A | ENSP00000462568.1:n.*340G>A | |
ENST00000614341.4:c.741G>A | ENSP00000480279.1:p.Leu247= | |
NM_001282489.2:c.432G>A | NP_001269418.1:p.Leu144= | |
NM_173477.4:c.741G>A | NP_775748.2:p.Leu247= | |
XM_011524296.1:c.432G>A | XP_011522598.1:p.Leu144= | |
XM_011524296.2:c.432G>A | XP_011522598.1:p.Leu144= | |
NM_173477.5:c.741G>A MANE Select | NP_775748.2:p.Leu247= | |
NM_001282489.3:c.432G>A | NP_001269418.1:p.Leu144= |