HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33087030A>G , CM000668.2:g.33087030A>G | GRCh38 |
NC_000006.11:g.33054807A>G , CM000668.1:g.33054807A>G | GRCh37 |
NC_000006.10:g.33162785A>G | NCBI36 |
NG_033242.1:g.16105A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000418931.7:c.*496A>G MANE Select | ENSP00000408146.2:n.*496A>G | |
ENST00000416804.1:c.1190A>G | ||
ENST00000418931.6:c.*496A>G | ENSP00000408146.2:n.*496A>G | |
NM_002121.5:c.*496A>G | NP_002112.3:n.*496A>G | |
NM_002121.6:c.*496A>G MANE Select | NP_002112.3:n.*496A>G |