HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31595154A>C , CM000680.2:g.31595154A>C | GRCh38 |
NC_000018.9:g.29175117A>C , CM000680.1:g.29175117A>C | GRCh37 |
NC_000018.8:g.27429115A>C | NCBI36 |
NG_009490.1:g.8388A>C , LRG_416:g.8388A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000237014.8:c.235A>C MANE Select | ENSP00000237014.4:p.Thr79Pro | |
ENST00000610404.5:c.139A>C | ENSP00000477599.2:p.Thr47Pro | |
ENST00000649620.1:c.235A>C | ENSP00000497927.1:p.Thr79Pro | |
ENST00000237014.7:c.235A>C | ENSP00000237014.3:p.Thr79Pro | |
ENST00000541025.2:n.261A>C | ||
ENST00000610404.4:c.235A>C | ENSP00000477599.1:p.Thr79Pro | |
ENST00000613781.1:c.235A>C | ENSP00000479174.1:p.Thr79Pro | |
NM_000371.3:c.235A>C , LRG_416t1:c.235A>C | NP_000362.1:p.Thr79Pro | |
NM_000371.4:c.235A>C MANE Select | NP_000362.1:p.Thr79Pro |