HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240879117T>C , CM000664.2:g.240879117T>C | GRCh38 |
NC_000002.11:g.241818534T>C , CM000664.1:g.241818534T>C | GRCh37 |
NC_000002.10:g.241467207T>C | NCBI36 |
NG_008005.1:g.15373T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.4:c.*296T>C MANE Select | ENSP00000302620.3:n.*296T>C | |
ENST00000307503.3:c.*296T>C | ENSP00000302620.3:n.*296T>C | |
ENST00000470255.1:n.1253T>C | ||
NM_000030.2:c.*296T>C | NP_000021.1:n.*296T>C | |
NM_000030.3:c.*296T>C MANE Select | NP_000021.1:n.*296T>C |