HGVS | Genome Assembly |
---|---|
NC_000007.14:g.23168036A>G , CM000669.2:g.23168036A>G | GRCh38 |
NC_000007.13:g.23207655A>G , CM000669.1:g.23207655A>G | GRCh37 |
NC_000007.12:g.23174180A>G | NCBI36 |
NG_016983.1:g.67303A>G | |
NG_016983.2:g.67303A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000339077.10:c.1378A>G MANE Select | ENSP00000343273.4:p.Thr460Ala | |
ENST00000339077.9:c.1378A>G | ENSP00000343273.4:p.Thr460Ala | |
ENST00000409689.5:c.1234A>G | ENSP00000386263.1:p.Thr412Ala | |
ENST00000469576.1:n.265A>G | ||
ENST00000521082.5:c.*1386A>G | ENSP00000430351.1:n.*1386A>G | |
NM_001031710.2:c.1378A>G | NP_001026880.2:p.Thr460Ala | |
NM_018846.4:c.1234A>G | NP_061334.4:p.Thr412Ala | |
NR_033328.1:n.1802A>G | ||
XM_006715753.1:c.1417A>G | XP_006715816.1:p.Thr473Ala | |
XM_006715754.1:c.1351A>G | XP_006715817.1:p.Thr451Ala | |
XM_006715755.1:c.1351A>G | XP_006715818.1:p.Thr451Ala | |
XM_006715756.1:c.1273A>G | XP_006715819.1:p.Thr425Ala | |
XM_006715753.3:c.1417A>G | XP_006715816.1:p.Thr473Ala | |
XM_006715754.3:c.1351A>G | XP_006715817.1:p.Thr451Ala | |
XM_006715755.3:c.1351A>G | XP_006715818.1:p.Thr451Ala | |
XM_006715756.3:c.1273A>G | XP_006715819.1:p.Thr425Ala | |
XM_017012439.2:c.1312A>G | XP_016867928.1:p.Thr438Ala | |
NM_001031710.3:c.1378A>G MANE Select | NP_001026880.2:p.Thr460Ala | |
NM_018846.5:c.1234A>G | NP_061334.4:p.Thr412Ala | |
NR_033328.2:n.1751A>G |