HGVS | Genome Assembly |
---|---|
NC_000017.11:g.34256272A>C , CM000679.2:g.34256272A>C | GRCh38 |
NC_000017.10:g.32583291A>C , CM000679.1:g.32583291A>C | GRCh37 |
NC_000017.9:g.29607404A>C | NCBI36 |
NG_012123.1:g.5996A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000580907.6:c.127A>C | ENSP00000462156.1:p.Ile43Leu | |
ENST00000624362.2:n.988A>C | ||
ENST00000225831.4:c.127A>C MANE Select | ENSP00000225831.4:p.Ile43Leu | |
ENST00000580907.5:c.127A>C | ENSP00000462156.1:p.Ile43Leu | |
ENST00000582017.1:n.65A>C | ||
NM_002982.3:c.127A>C | NP_002973.1:p.Ile43Leu | |
NM_002982.4:c.127A>C MANE Select | NP_002973.1:p.Ile43Leu |