HGVS | Genome Assembly |
---|---|
NC_000023.11:g.108084552A>G , CM000685.2:g.108084552A>G | GRCh38 |
NC_000023.10:g.107327782A>G , CM000685.1:g.107327782A>G | GRCh37 |
NC_000023.9:g.107214438A>G | NCBI36 |
NG_012521.1:g.12067T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000217958.8:c.*422T>C MANE Select | ENSP00000217958.3:n.*422T>C | |
ENST00000217958.7:c.*422T>C | ENSP00000217958.3:n.*422T>C | |
NM_002814.3:c.*422T>C | NP_002805.1:n.*422T>C | |
NM_170750.2:c.*568T>C | NP_736606.1:n.*568T>C | |
NM_002814.4:c.*422T>C MANE Select | NP_002805.1:n.*422T>C | |
NM_170750.3:c.*568T>C | NP_736606.1:n.*568T>C |