HGVS | Genome Assembly |
---|---|
NC_000005.10:g.140114743A>C , CM000667.2:g.140114743A>C | GRCh38 |
NC_000005.9:g.139494328A>C , CM000667.1:g.139494328A>C | GRCh37 |
NC_000005.8:g.139474512A>C | NCBI36 |
NG_041813.1:g.5621A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331327.5:c.562A>C MANE Select | ENSP00000332706.3:p.Ile188Leu | |
ENST00000651386.1:c.562A>C | ENSP00000499133.1:p.Ile188Leu | |
ENST00000331327.4:c.562A>C | ENSP00000332706.3:p.Ile188Leu | |
NM_005859.4:c.562A>C | NP_005850.1:p.Ile188Leu | |
NM_005859.5:c.562A>C MANE Select | NP_005850.1:p.Ile188Leu |