HGVS | Genome Assembly |
---|---|
NC_000019.10:g.3585733G>C , CM000681.2:g.3585733G>C | GRCh38 |
NC_000019.9:g.3585731G>C , CM000681.1:g.3585731G>C | GRCh37 |
NC_000019.8:g.3536731G>C | NCBI36 |
NG_031943.1:g.5163G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000644452.3:c.136G>C MANE Select | ENSP00000493901.2:p.Gly46Arg | |
ENST00000644946.1:c.136G>C | ENSP00000495068.1:p.Gly46Arg | |
ENST00000322315.5:c.136G>C | ENSP00000319254.5:p.Gly46Arg | |
NM_133261.2:c.136G>C | NP_573568.1:p.Gly46Arg | |
XM_005259492.2:c.136G>C | XP_005259549.1:p.Gly46Arg | |
XM_005259492.3:c.136G>C | XP_005259549.1:p.Gly46Arg | |
NM_133261.3:c.136G>C MANE Select | NP_573568.1:p.Gly46Arg |