HGVS | Genome Assembly |
---|---|
NC_000011.10:g.65868614C>G , CM000673.2:g.65868614C>G | GRCh38 |
NC_000011.9:g.65636085C>G , CM000673.1:g.65636085C>G | GRCh37 |
NC_000011.8:g.65392661C>G | NCBI36 |
NG_012304.2:g.9321G>C | |
NG_053116.1:g.13553C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307998.11:c.743G>C MANE Select | ENSP00000309953.6:p.Ser248Thr | |
ENST00000307998.10:c.743G>C | ENSP00000309953.6:p.Ser248Thr | |
ENST00000526628.5:n.1309G>C | ||
ENST00000527969.1:n.1428G>C | ||
ENST00000528176.5:c.743G>C | ENSP00000434151.1:p.Ser248Thr | |
ENST00000531005.5:n.1737G>C | ||
ENST00000531972.5:c.743G>C | ENSP00000435295.1:p.Ser248Thr | |
ENST00000532084.5:n.169G>C | ||
NM_016938.4:c.743G>C | NP_058634.4:p.Ser248Thr | |
NR_037718.1:n.1002G>C | ||
NM_016938.5:c.743G>C MANE Select | NP_058634.4:p.Ser248Thr | |
NR_037718.2:n.868G>C |