HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612354A>C , CM000679.2:g.41612354A>C | GRCh38 |
NC_000017.10:g.39768606A>C , CM000679.1:g.39768606A>C | GRCh37 |
NC_000017.9:g.37022132A>C | NCBI36 |
NG_008301.1:g.5474T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301653.9:c.335T>G MANE Select | ENSP00000301653.3:p.Leu112Arg | |
ENST00000301653.8:c.335T>G | ENSP00000301653.3:p.Leu112Arg | |
ENST00000588319.1:n.412T>G | ||
ENST00000593067.1:c.-312-68T>G | ENSP00000467124.1:n.-312-68T>G | |
NM_005557.3:c.335T>G | NP_005548.2:p.Leu112Arg | |
NM_005557.4:c.335T>G MANE Select | NP_005548.2:p.Leu112Arg |