HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116789952A>C , CM000673.2:g.116789952A>C | GRCh38 |
NC_000011.9:g.116660668A>C , CM000673.1:g.116660668A>C | GRCh37 |
NC_000011.8:g.116165878A>C | NCBI36 |
NG_015894.1:g.7469T>G | |
NG_015894.2:g.7469T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000227665.9:c.*176T>G MANE Select | ENSP00000227665.4:n.*176T>G | |
ENST00000433069.2:c.*176T>G | ENSP00000399701.2:n.*176T>G | |
ENST00000227665.8:c.*176T>G | ENSP00000227665.4:n.*176T>G | |
ENST00000542499.5:c.*176T>G | ENSP00000445002.1:n.*176T>G | |
NM_001166598.1:c.*176T>G | NP_001160070.1:n.*176T>G | |
NM_052968.4:c.*176T>G | NP_443200.2:n.*176T>G | |
NM_001166598.2:c.*176T>G | NP_001160070.1:n.*176T>G | |
NM_001371904.1:c.*176T>G MANE Select | NP_001358833.1:n.*176T>G | |
NM_052968.5:c.*176T>G | NP_443200.2:n.*176T>G |