HGVS | Genome Assembly |
---|---|
NC_000002.12:g.206122011C>G , CM000664.2:g.206122011C>G | GRCh38 |
NC_000002.11:g.206986735C>G , CM000664.1:g.206986735C>G | GRCh37 |
NC_000002.10:g.206694980C>G | NCBI36 |
NG_009248.1:g.42453G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000233190.11:c.*2174G>C MANE Select | ENSP00000233190.5:n.*2174G>C | |
ENST00000233190.10:c.*2174G>C | ENSP00000233190.5:n.*2174G>C | |
NM_001199981.2:c.*2174G>C | NP_001186910.1:n.*2174G>C | |
NM_001199982.2:c.*2174G>C | NP_001186911.1:n.*2174G>C | |
NM_001199983.2:c.*2174G>C | NP_001186912.1:n.*2174G>C | |
NM_005006.7:c.*2174G>C MANE Select | NP_004997.4:n.*2174G>C | |
NM_001199984.2:c.*2174G>C | NP_001186913.1:n.*2174G>C |