HGVS | Genome Assembly |
---|---|
NC_000016.10:g.82148407T>G , CM000678.2:g.82148407T>G | GRCh38 |
NC_000016.9:g.82182012T>G , CM000678.1:g.82182012T>G | GRCh37 |
NC_000016.8:g.80739513T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258169.9:c.*324A>C MANE Select | ENSP00000258169.4:n.*324A>C | |
ENST00000258169.8:c.*324A>C | ENSP00000258169.4:n.*324A>C | |
ENST00000563100.5:c.*72+252A>C | ENSP00000454996.1:n.*72+252A>C | |
NM_005792.2:c.*324A>C MANE Select | NP_005783.2:n.*324A>C | |
XM_011522808.1:c.*324A>C | XP_011521110.1:n.*324A>C | |
XM_011522808.3:c.*324A>C | XP_011521110.1:n.*324A>C |