HGVS | Genome Assembly |
---|---|
NC_000022.11:g.29313184A>C , CM000684.2:g.29313184A>C | GRCh38 |
NC_000022.10:g.29709173A>C , CM000684.1:g.29709173A>C | GRCh37 |
NC_000022.9:g.28039173A>C | NCBI36 |
NG_032959.1:g.11178A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216101.7:c.*117T>G MANE Select | ENSP00000216101.6:n.*117T>G | |
ENST00000216101.6:c.*117T>G | ENSP00000216101.6:n.*117T>G | |
ENST00000401450.3:c.*675T>G | ENSP00000386095.3:n.*675T>G | |
NM_006477.4:c.*117T>G | NP_006468.1:n.*117T>G | |
XM_011529821.1:c.*117T>G | XP_011528123.1:n.*117T>G | |
XM_011529822.1:c.*117T>G | XP_011528124.1:n.*117T>G | |
XM_011529823.1:c.*117T>G | XP_011528125.1:n.*117T>G | |
NM_006477.5:c.*117T>G MANE Select | NP_006468.1:n.*117T>G |