HGVS | Genome Assembly |
---|---|
NC_000001.11:g.186673823A>G , CM000663.2:g.186673823A>G | GRCh38 |
NC_000001.10:g.186642955A>G , CM000663.1:g.186642955A>G | GRCh37 |
NC_000001.9:g.184909578A>G | NCBI36 |
NG_028206.2:g.11605T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367468.10:c.*530T>C MANE Select | ENSP00000356438.5:n.*530T>C | |
ENST00000680451.1:c.*530T>C | ENSP00000506242.1:n.*530T>C | |
ENST00000681605.1:c.*2017T>C | ENSP00000504900.1:n.*2017T>C | |
ENST00000367468.9:c.*530T>C | ENSP00000356438.5:n.*530T>C | |
ENST00000490885.6:n.2760T>C | ||
NM_000963.3:c.*530T>C | NP_000954.1:n.*530T>C | |
NM_000963.4:c.*530T>C MANE Select | NP_000954.1:n.*530T>C |