HGVS | Genome Assembly |
---|---|
NC_000011.10:g.74000975A>G , CM000673.2:g.74000975A>G | GRCh38 |
NC_000011.9:g.73712020A>G , CM000673.1:g.73712020A>G | GRCh37 |
NC_000011.8:g.73389668A>G | NCBI36 |
NG_011515.1:g.13263T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000314032.9:c.*437T>C MANE Select | ENSP00000323740.4:n.*437T>C | |
ENST00000314032.8:c.*437T>C | ENSP00000323740.4:n.*437T>C | |
NM_003356.3:c.*437T>C | NP_003347.1:n.*437T>C | |
XR_950298.1:n.1768+4941A>G | ||
NM_003356.4:c.*437T>C MANE Select | NP_003347.1:n.*437T>C |