HGVS | Genome Assembly |
---|---|
NC_000002.12:g.206122456C>T , CM000664.2:g.206122456C>T | GRCh38 |
NC_000002.11:g.206987180C>T , CM000664.1:g.206987180C>T | GRCh37 |
NC_000002.10:g.206695425C>T | NCBI36 |
NG_009248.1:g.42008G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000233190.11:c.*1729G>A MANE Select | ENSP00000233190.5:n.*1729G>A | |
ENST00000233190.10:c.*1729G>A | ENSP00000233190.5:n.*1729G>A | |
NM_001199981.2:c.*1729G>A | NP_001186910.1:n.*1729G>A | |
NM_001199982.2:c.*1729G>A | NP_001186911.1:n.*1729G>A | |
NM_001199983.2:c.*1729G>A | NP_001186912.1:n.*1729G>A | |
NM_005006.7:c.*1729G>A MANE Select | NP_004997.4:n.*1729G>A | |
NM_001199984.2:c.*1729G>A | NP_001186913.1:n.*1729G>A |