HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31598560T>C , CM000680.2:g.31598560T>C | GRCh38 |
NC_000018.9:g.29178523T>C , CM000680.1:g.29178523T>C | GRCh37 |
NC_000018.8:g.27432521T>C | NCBI36 |
NG_009490.1:g.11794T>C , LRG_416:g.11794T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000237014.8:c.337-8T>C MANE Select | ENSP00000237014.4:n.337-8T>C | |
ENST00000610404.5:c.241-8T>C | ENSP00000477599.2:n.241-8T>C | |
ENST00000649620.1:c.337-8T>C | ENSP00000497927.1:n.337-8T>C | |
ENST00000237014.7:c.337-8T>C | ENSP00000237014.3:n.337-8T>C | |
ENST00000610404.4:c.451-8T>C | ENSP00000477599.1:n.451-8T>C | |
ENST00000613781.1:c.337-8T>C | ENSP00000479174.1:n.337-8T>C | |
NM_000371.3:c.337-8T>C , LRG_416t1:c.337-8T>C | NP_000362.1:n.337-8T>C | |
NM_000371.4:c.337-8T>C MANE Select | NP_000362.1:n.337-8T>C |