HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74920198T>C , CM000679.2:g.74920198T>C | GRCh38 |
NC_000017.10:g.72916293T>C , CM000679.1:g.72916293T>C | GRCh37 |
NC_000017.9:g.70427888T>C | NCBI36 |
NG_007882.1:g.8059A>G | |
NG_033062.1:g.924T>C | |
NG_007882.2:g.8066A>G | |
NG_033062.2:g.924T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614341.5:c.638A>G MANE Select | ENSP00000480279.1:p.Lys213Arg | |
ENST00000579243.1:c.*237A>G | ENSP00000462568.1:n.*237A>G | |
ENST00000614341.4:c.638A>G | ENSP00000480279.1:p.Lys213Arg | |
NM_001282489.2:c.329A>G | NP_001269418.1:p.Lys110Arg | |
NM_173477.4:c.638A>G | NP_775748.2:p.Lys213Arg | |
XM_011524296.1:c.329A>G | XP_011522598.1:p.Lys110Arg | |
XM_011524296.2:c.329A>G | XP_011522598.1:p.Lys110Arg | |
NM_173477.5:c.638A>G MANE Select | NP_775748.2:p.Lys213Arg | |
NM_001282489.3:c.329A>G | NP_001269418.1:p.Lys110Arg |