HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189565405C>T , CM000664.2:g.189565405C>T | GRCh38 |
NC_000002.11:g.190430131C>T , CM000664.1:g.190430131C>T | GRCh37 |
NC_000002.10:g.190138376C>T | NCBI36 |
NG_009027.1:g.20407G>A , LRG_837:g.20407G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261024.7:c.709G>A MANE Select | ENSP00000261024.3:p.Ala237Thr | |
ENST00000261024.6:c.709G>A | ENSP00000261024.2:p.Ala237Thr | |
NM_014585.5:c.709G>A , LRG_837t1:c.709G>A | NP_055400.1:p.Ala237Thr | |
XM_005246505.1:c.589G>A | XP_005246562.1:p.Ala197Thr | |
XM_005246505.2:c.589G>A | XP_005246562.1:p.Ala197Thr | |
XM_017003938.2:c.589G>A | XP_016859427.1:p.Ala197Thr | |
NM_014585.6:c.709G>A MANE Select | NP_055400.1:p.Ala237Thr |