HGVS | Genome Assembly |
---|---|
NC_000011.10:g.65868613G>C , CM000673.2:g.65868613G>C | GRCh38 |
NC_000011.9:g.65636084G>C , CM000673.1:g.65636084G>C | GRCh37 |
NC_000011.8:g.65392660G>C | NCBI36 |
NG_012304.2:g.9322C>G | |
NG_053116.1:g.13552G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307998.11:c.744C>G MANE Select | ENSP00000309953.6:p.Ser248Arg | |
ENST00000307998.10:c.744C>G | ENSP00000309953.6:p.Ser248Arg | |
ENST00000526628.5:n.1310C>G | ||
ENST00000527969.1:n.1429C>G | ||
ENST00000528176.5:c.744C>G | ENSP00000434151.1:p.Ser248Arg | |
ENST00000531005.5:n.1738C>G | ||
ENST00000531972.5:c.744C>G | ENSP00000435295.1:p.Ser248Arg | |
ENST00000532084.5:n.170C>G | ||
NM_016938.4:c.744C>G | NP_058634.4:p.Ser248Arg | |
NR_037718.1:n.1003C>G | ||
NM_016938.5:c.744C>G MANE Select | NP_058634.4:p.Ser248Arg | |
NR_037718.2:n.869C>G |