HGVS | Genome Assembly |
---|---|
NC_000017.11:g.34256306T>C , CM000679.2:g.34256306T>C | GRCh38 |
NC_000017.10:g.32583325T>C , CM000679.1:g.32583325T>C | GRCh37 |
NC_000017.9:g.29607438T>C | NCBI36 |
NG_012123.1:g.6030T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000580907.6:c.161T>C | ENSP00000462156.1:p.Ile54Thr | |
ENST00000624362.2:n.1022T>C | ||
ENST00000225831.4:c.161T>C MANE Select | ENSP00000225831.4:p.Ile54Thr | |
ENST00000580907.5:c.161T>C | ENSP00000462156.1:p.Ile54Thr | |
ENST00000582017.1:n.99T>C | ||
NM_002982.3:c.161T>C | NP_002973.1:p.Ile54Thr | |
NM_002982.4:c.161T>C MANE Select | NP_002973.1:p.Ile54Thr |