HGVS | Genome Assembly |
---|---|
NC_000002.12:g.203961006G>A , CM000664.2:g.203961006G>A | GRCh38 |
NC_000002.11:g.204825729G>A , CM000664.1:g.204825729G>A | GRCh37 |
NC_000002.10:g.204533974G>A | NCBI36 |
NG_011586.1:g.29227G>A , LRG_65:g.29227G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000316386.11:c.*1407G>A MANE Select | ENSP00000319476.6:n.*1407G>A | |
ENST00000316386.10:c.*1407G>A | ENSP00000319476.6:n.*1407G>A | |
ENST00000435193.1:c.*1415G>A | ENSP00000415951.1:n.*1415G>A | |
NM_012092.3:c.*1407G>A , LRG_65t1:c.*1407G>A | NP_036224.1:n.*1407G>A | |
XM_011511028.1:c.*1508G>A | XP_011509330.1:n.*1508G>A | |
XM_011511029.1:c.*1407G>A | XP_011509331.1:n.*1407G>A | |
XM_011511030.1:c.*1508G>A | XP_011509332.1:n.*1508G>A | |
XM_011511031.1:c.*1508G>A | XP_011509333.1:n.*1508G>A | |
NM_012092.4:c.*1407G>A MANE Select | NP_036224.1:n.*1407G>A |