HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612178T>G , CM000679.2:g.41612178T>G | GRCh38 |
NC_000017.10:g.39768430T>G , CM000679.1:g.39768430T>G | GRCh37 |
NC_000017.9:g.37021956T>G | NCBI36 |
NG_008301.1:g.5650A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301653.9:c.511A>C MANE Select | ENSP00000301653.3:p.Ile171Leu | |
ENST00000301653.8:c.511A>C | ENSP00000301653.3:p.Ile171Leu | |
ENST00000588319.1:n.588A>C | ||
ENST00000593067.1:c.-204A>C | ENSP00000467124.1:n.-204A>C | |
NM_005557.3:c.511A>C | NP_005548.2:p.Ile171Leu | |
NM_005557.4:c.511A>C MANE Select | NP_005548.2:p.Ile171Leu |