HGVS | Genome Assembly |
---|---|
NC_000001.11:g.15445680G>C , CM000663.2:g.15445680G>C | GRCh38 |
NC_000001.10:g.15772175G>C , CM000663.1:g.15772175G>C | GRCh37 |
NC_000001.9:g.15644762G>C | NCBI36 |
NG_009253.1:g.12238G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375949.5:c.723G>C MANE Select | ENSP00000365116.4:p.Arg241= | |
ENST00000375943.6:c.*177G>C | ENSP00000365110.2:n.*177G>C | |
ENST00000375949.4:c.723G>C | ENSP00000365116.4:p.Arg241= | |
ENST00000483406.1:n.487G>C | ||
NM_007272.2:c.723G>C | NP_009203.2:p.Arg241= | |
XM_011540550.1:c.577G>C | XP_011538852.1:p.Gly193Arg | |
NM_007272.3:c.723G>C MANE Select | NP_009203.2:p.Arg241= |