HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189575219A>C , CM000664.2:g.189575219A>C | GRCh38 |
NC_000002.11:g.190439945A>C , CM000664.1:g.190439945A>C | GRCh37 |
NC_000002.10:g.190148190A>C | NCBI36 |
NG_009027.1:g.10593T>G , LRG_837:g.10593T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261024.7:c.213T>G MANE Select | ENSP00000261024.3:p.Ser71= | |
ENST00000261024.6:c.213T>G | ENSP00000261024.2:p.Ser71= | |
ENST00000418714.1:n.654T>G | ||
ENST00000427241.5:c.213T>G | ENSP00000390005.1:p.Ser71= | |
ENST00000479598.5:n.494T>G | ||
NM_014585.5:c.213T>G , LRG_837t1:c.213T>G | NP_055400.1:p.Ser71= | |
XM_005246505.1:c.93T>G | XP_005246562.1:p.Ser31= | |
XM_005246505.2:c.93T>G | XP_005246562.1:p.Ser31= | |
XM_017003938.2:c.93T>G | XP_016859427.1:p.Ser31= | |
NM_014585.6:c.213T>G MANE Select | NP_055400.1:p.Ser71= |