HGVS | Genome Assembly |
---|---|
NC_000002.12:g.206121970G>A , CM000664.2:g.206121970G>A | GRCh38 |
NC_000002.11:g.206986694G>A , CM000664.1:g.206986694G>A | GRCh37 |
NC_000002.10:g.206694939G>A | NCBI36 |
NG_009248.1:g.42494C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000233190.11:c.*2215C>T MANE Select | ENSP00000233190.5:n.*2215C>T | |
ENST00000233190.10:c.*2215C>T | ENSP00000233190.5:n.*2215C>T | |
NM_001199981.2:c.*2215C>T | NP_001186910.1:n.*2215C>T | |
NM_001199982.2:c.*2215C>T | NP_001186911.1:n.*2215C>T | |
NM_001199983.2:c.*2215C>T | NP_001186912.1:n.*2215C>T | |
NM_005006.7:c.*2215C>T MANE Select | NP_004997.4:n.*2215C>T | |
NM_001199984.2:c.*2215C>T | NP_001186913.1:n.*2215C>T |