HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42403872T>C , CM000679.2:g.42403872T>C | GRCh38 |
NC_000017.10:g.40555890T>C , CM000679.1:g.40555890T>C | GRCh37 |
NC_000017.9:g.37809416T>C | NCBI36 |
NG_015845.1:g.24449A>G | |
NG_015845.2:g.24449A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000357037.6:c.*815A>G MANE Select | ENSP00000349541.4:n.*815A>G | |
ENST00000357037.5:c.*815A>G | ENSP00000349541.4:n.*815A>G | |
NM_012232.5:c.*815A>G | NP_036364.2:n.*815A>G | |
NM_012232.6:c.*815A>G MANE Select | NP_036364.2:n.*815A>G |