HGVS | Genome Assembly |
---|---|
NC_000011.10:g.65868609A>G , CM000673.2:g.65868609A>G | GRCh38 |
NC_000011.9:g.65636080A>G , CM000673.1:g.65636080A>G | GRCh37 |
NC_000011.8:g.65392656A>G | NCBI36 |
NG_012304.2:g.9326T>C | |
NG_053116.1:g.13548A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307998.11:c.748T>C MANE Select | ENSP00000309953.6:p.Ser250Pro | |
ENST00000307998.10:c.748T>C | ENSP00000309953.6:p.Ser250Pro | |
ENST00000526628.5:n.1314T>C | ||
ENST00000527969.1:n.1433T>C | ||
ENST00000528176.5:c.748T>C | ENSP00000434151.1:p.Ser250Pro | |
ENST00000531005.5:n.1742T>C | ||
ENST00000531972.5:c.748T>C | ENSP00000435295.1:p.Ser250Pro | |
ENST00000532084.5:n.174T>C | ||
NM_016938.4:c.748T>C | NP_058634.4:p.Ser250Pro | |
NR_037718.1:n.1007T>C | ||
NM_016938.5:c.748T>C MANE Select | NP_058634.4:p.Ser250Pro | |
NR_037718.2:n.873T>C |