HGVS | Genome Assembly |
---|---|
NC_000005.10:g.111071891A>C , CM000667.2:g.111071891A>C | GRCh38 |
NC_000005.9:g.110407589A>C , CM000667.1:g.110407589A>C | GRCh37 |
NC_000005.8:g.110435488A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344895.4:c.1A>C MANE Select | ENSP00000339804.3:p.Met1Leu | |
ENST00000344895.3:c.1A>C | ENSP00000339804.3:p.Met1Leu | |
ENST00000420978.6:c.35-34A>C | ENSP00000399099.2:n.35-34A>C | |
NM_033035.4:c.1A>C | NP_149024.1:p.Met1Leu | |
NR_045089.1:n.1439-34A>C | ||
NM_033035.5:c.1A>C MANE Select | NP_149024.1:p.Met1Leu | |
NR_045089.2:n.1457-34A>C |