HGVS | Genome Assembly |
---|---|
NC_000002.12:g.84425614A>G , CM000664.2:g.84425614A>G | GRCh38 |
NC_000002.11:g.84652738A>G , CM000664.1:g.84652738A>G | GRCh37 |
NC_000002.10:g.84506249A>G | NCBI36 |
NG_016755.1:g.38849T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393868.7:c.826-11T>C MANE Select | ENSP00000377446.2:n.826-11T>C | |
ENST00000651342.1:c.*266-11T>C | ENSP00000498471.1:n.*266-11T>C | |
ENST00000393868.6:c.826-11T>C | ENSP00000377446.2:n.826-11T>C | |
ENST00000484365.1:n.1323T>C | ||
ENST00000487809.1:n.573-11T>C | ||
ENST00000491123.5:n.672-11T>C | ||
NM_003849.3:c.826-11T>C | NP_003840.2:n.826-11T>C | |
NM_003849.4:c.826-11T>C MANE Select | NP_003840.2:n.826-11T>C |