HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42184423T>G , CM000679.2:g.42184423T>G | GRCh38 |
NC_000017.10:g.40336441T>G , CM000679.1:g.40336441T>G | GRCh37 |
NC_000017.9:g.37589967T>G | NCBI36 |
NG_011448.1:g.6030A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293330.1:c.127A>C MANE Select | ENSP00000293330.1:p.Lys43Gln | |
NM_001524.1:c.127A>C MANE Select | NP_001515.1:p.Lys43Gln |