HGVS | Genome Assembly |
---|---|
NC_000009.12:g.101424899C>G , CM000671.2:g.101424899C>G | GRCh38 |
NC_000009.11:g.104187181C>G , CM000671.1:g.104187181C>G | GRCh37 |
NC_000009.10:g.103227002C>G | NCBI36 |
NG_012387.1:g.15882G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647789.2:c.943G>C MANE Select | ENSP00000497767.1:p.Gly315Arg | |
ENST00000648064.1:c.943G>C | ENSP00000497990.1:p.Gly315Arg | |
ENST00000648758.1:c.943G>C | ENSP00000497731.1:p.Gly315Arg | |
ENST00000649902.1:c.943G>C | ENSP00000497216.1:p.Gly315Arg | |
ENST00000374855.8:c.943G>C | ENSP00000363988.4:p.Gly315Arg | |
ENST00000616752.1:c.906G>C | ENSP00000481363.1:p.Trp302Cys | |
NM_000035.3:c.943G>C | NP_000026.2:p.Gly315Arg | |
NM_000035.4:c.943G>C MANE Select | NP_000026.2:p.Gly315Arg |