HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154837622C>A , CM000685.2:g.154837622C>A | GRCh38 |
NC_000023.10:g.154065897C>A , CM000685.1:g.154065897C>A | GRCh37 |
NC_000023.9:g.153719091C>A | NCBI36 |
NG_011403.1:g.190102G>T | |
NG_033065.1:g.2041G>T | |
NG_011403.2:g.190102G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.7031G>T MANE Select | ENSP00000353393.4:p.Gly2344Val | |
ENST00000644698.1:c.764G>T | ENSP00000495706.1:p.Gly255Val | |
ENST00000330287.10:c.626G>T | ENSP00000327895.6:p.Gly209Val | |
ENST00000360256.8:c.7031G>T | ENSP00000353393.4:p.Gly2344Val | |
NM_000132.3:c.7031G>T | NP_000123.1:p.Gly2344Val | |
NM_019863.2:c.626G>T | NP_063916.1:p.Gly209Val | |
XM_011531126.1:c.6926G>T | XP_011529428.1:p.Gly2309Val | |
NM_000132.4:c.7031G>T MANE Select | NP_000123.1:p.Gly2344Val | |
NM_019863.3:c.626G>T | NP_063916.1:p.Gly209Val |