HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48467986C>G , CM000677.2:g.48467986C>G | GRCh38 |
NC_000015.9:g.48760183C>G , CM000677.1:g.48760183C>G | GRCh37 |
NC_000015.8:g.46547475C>G | NCBI36 |
NG_008805.2:g.182803G>C , LRG_778:g.182803G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.4699G>C | ENSP00000453958.2:p.Gly1567Arg | |
ENST00000674301.2:c.4699G>C | ENSP00000501333.2:p.Gly1567Arg | |
ENST00000684448.1:n.3373G>C | ||
ENST00000316623.10:c.4699G>C MANE Select | ENSP00000325527.5:p.Gly1567Arg | |
ENST00000316623.9:c.4699G>C | ENSP00000325527.5:p.Gly1567Arg | |
ENST00000537463.6:c.*462G>C | ENSP00000440294.2:n.*462G>C | |
ENST00000559133.5:c.6G>C | ||
NM_000138.4:c.4699G>C , LRG_778t1:c.4699G>C | NP_000129.3:p.Gly1567Arg | |
NM_000138.5:c.4699G>C MANE Select | NP_000129.3:p.Gly1567Arg |