HGVS | Genome Assembly |
---|---|
NC_000014.9:g.91273442A>C , CM000676.2:g.91273442A>C | GRCh38 |
NC_000014.8:g.91739786A>C , CM000676.1:g.91739786A>C | GRCh37 |
NC_000014.7:g.90809539A>C | NCBI36 |
NG_033118.1:g.149403T>G | |
NG_033118.2:g.149403T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389857.11:c.5270T>G MANE Select | ENSP00000374507.6:p.Leu1757Arg | |
ENST00000331194.8:c.842T>G | ENSP00000330332.8:p.Leu281Arg | |
ENST00000389857.10:c.5270T>G | ENSP00000374507.6:p.Leu1757Arg | |
ENST00000556726.5:c.1498T>G | ||
NM_001080414.3:c.5270T>G | NP_001073883.2:p.Leu1757Arg | |
XM_011536796.1:c.5162T>G | XP_011535098.1:p.Leu1721Arg | |
XM_011536796.2:c.5162T>G | XP_011535098.1:p.Leu1721Arg | |
XM_017021336.1:c.2351T>G | XP_016876825.1:p.Leu784Arg | |
NM_001080414.4:c.5270T>G MANE Select | NP_001073883.2:p.Leu1757Arg |