HGVS | Genome Assembly |
---|---|
NC_000009.12:g.12695537A>C , CM000671.2:g.12695537A>C | GRCh38 |
NC_000009.11:g.12695537A>C , CM000671.1:g.12695537A>C | GRCh37 |
NC_000009.10:g.12685537A>C | NCBI36 |
NG_011705.1:g.7152A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000388918.10:c.408A>C MANE Select | ENSP00000373570.4:p.Leu136Phe | |
ENST00000388918.9:c.408A>C | ENSP00000373570.4:p.Leu136Phe | |
NM_000550.2:c.408A>C | NP_000541.1:p.Leu136Phe | |
XR_001746372.2:n.597A>C | ||
NM_000550.3:c.408A>C MANE Select | NP_000541.1:p.Leu136Phe |