HGVS | Genome Assembly |
---|---|
NC_000017.11:g.47733458G>C , CM000679.2:g.47733458G>C | GRCh38 |
NC_000017.10:g.45810824G>C , CM000679.1:g.45810824G>C | GRCh37 |
NC_000017.9:g.43165823G>C | NCBI36 |
NG_012166.1:g.5215G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000177694.2:c.4G>C MANE Select | ENSP00000177694.1:p.Gly2Arg | |
ENST00000177694.1:c.4G>C | ENSP00000177694.1:p.Gly2Arg | |
ENST00000581328.1:n.34G>C | ||
NM_013351.1:c.4G>C | NP_037483.1:p.Gly2Arg | |
XM_011524698.1:c.4G>C | XP_011523000.1:p.Gly2Arg | |
NM_013351.2:c.4G>C MANE Select | NP_037483.1:p.Gly2Arg |