HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189563619C>G , CM000664.2:g.189563619C>G | GRCh38 |
NC_000002.11:g.190428345C>G , CM000664.1:g.190428345C>G | GRCh37 |
NC_000002.10:g.190136590C>G | NCBI36 |
NG_009027.1:g.22193G>C , LRG_837:g.22193G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261024.7:c.1367G>C MANE Select | ENSP00000261024.3:p.Ser456Thr | |
ENST00000261024.6:c.1367G>C | ENSP00000261024.2:p.Ser456Thr | |
NM_014585.5:c.1367G>C , LRG_837t1:c.1367G>C | NP_055400.1:p.Ser456Thr | |
XM_005246505.1:c.1247G>C | XP_005246562.1:p.Ser416Thr | |
XM_005246505.2:c.1247G>C | XP_005246562.1:p.Ser416Thr | |
XM_017003938.2:c.1247G>C | XP_016859427.1:p.Ser416Thr | |
NM_014585.6:c.1367G>C MANE Select | NP_055400.1:p.Ser456Thr |