HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33005837T>C , CM000668.2:g.33005837T>C | GRCh38 |
NC_000006.11:g.32973614T>C , CM000668.1:g.32973614T>C | GRCh37 |
NC_000006.10:g.33081592T>C | NCBI36 |
NG_012007.1:g.8776A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000229829.7:c.*1001A>G MANE Select | ENSP00000229829.3:n.*1001A>G | |
ENST00000229829.6:c.*1001A>G | ENSP00000229829.3:n.*1001A>G | |
NM_002119.3:c.*1001A>G | NP_002110.1:n.*1001A>G | |
NM_002119.4:c.*1001A>G MANE Select | NP_002110.1:n.*1001A>G |