HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47337779G>C , CM000673.2:g.47337779G>C | GRCh38 |
NC_000011.9:g.47359330G>C , CM000673.1:g.47359330G>C | GRCh37 |
NC_000011.8:g.47315906G>C | NCBI36 |
NG_007667.1:g.19924C>G , LRG_386:g.19924C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000545968.6:c.2324C>G MANE Select | ENSP00000442795.1:p.Pro775Arg | |
ENST00000256993.8:c.2324C>G | ENSP00000256993.5:p.Pro775Arg | |
ENST00000399249.6:c.2324C>G | ENSP00000382193.2:p.Pro775Arg | |
ENST00000544791.1:c.2324C>G | ENSP00000444259.1:p.Pro775Arg | |
ENST00000545968.5:c.2324C>G | ENSP00000442795.1:p.Pro775Arg | |
NM_000256.3:c.2324C>G , LRG_386t1:c.2324C>G MANE Select | NP_000247.2:p.Pro775Arg | |
XM_011520117.1:c.2306C>G | XP_011518419.1:p.Pro769Arg | |
XM_011520118.1:c.2243C>G | XP_011518420.1:p.Pro748Arg |