HGVS | Genome Assembly |
---|---|
NC_000017.11:g.34256258T>A , CM000679.2:g.34256258T>A | GRCh38 |
NC_000017.10:g.32583277T>A , CM000679.1:g.32583277T>A | GRCh37 |
NC_000017.9:g.29607390T>A | NCBI36 |
NG_012123.1:g.5982T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000580907.6:c.113T>A | ENSP00000462156.1:p.Phe38Tyr | |
ENST00000624362.2:n.974T>A | ||
ENST00000225831.4:c.113T>A MANE Select | ENSP00000225831.4:p.Phe38Tyr | |
ENST00000580907.5:c.113T>A | ENSP00000462156.1:p.Phe38Tyr | |
ENST00000582017.1:n.51T>A | ||
NM_002982.3:c.113T>A | NP_002973.1:p.Phe38Tyr | |
NM_002982.4:c.113T>A MANE Select | NP_002973.1:p.Phe38Tyr |