HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42184447G>C , CM000679.2:g.42184447G>C | GRCh38 |
NC_000017.10:g.40336465G>C , CM000679.1:g.40336465G>C | GRCh37 |
NC_000017.9:g.37589991G>C | NCBI36 |
NG_011448.1:g.6006C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293330.1:c.103C>G MANE Select | ENSP00000293330.1:p.Pro35Ala | |
NM_001524.1:c.103C>G MANE Select | NP_001515.1:p.Pro35Ala |