HGVS | Genome Assembly |
---|---|
NC_000014.9:g.50937742A>G , CM000676.2:g.50937742A>G | GRCh38 |
NC_000014.8:g.51404460A>G , CM000676.1:g.51404460A>G | GRCh37 |
NC_000014.7:g.50474210A>G | NCBI36 |
NG_012796.1:g.11789T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216392.8:c.339T>C MANE Select | ENSP00000216392.7:p.Ile113= | |
ENST00000216392.7:c.339T>C | ENSP00000216392.7:p.Ile113= | |
ENST00000530336.2:n.406T>C | ||
ENST00000532462.5:c.339T>C | ENSP00000431657.1:p.Ile113= | |
ENST00000544180.6:c.244-2557T>C | ENSP00000443787.1:n.244-2557T>C | |
NM_001163940.1:c.244-2557T>C | NP_001157412.1:n.244-2557T>C | |
NM_002863.4:c.339T>C | NP_002854.3:p.Ile113= | |
NM_002863.5:c.339T>C MANE Select | NP_002854.3:p.Ile113= | |
NM_001163940.2:c.244-2557T>C | NP_001157412.1:n.244-2557T>C |