HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816306A>C , CM000681.2:g.4816306A>C | GRCh38 |
NC_000019.9:g.4816318A>C , CM000681.1:g.4816318A>C | GRCh37 |
NC_000019.8:g.4767318A>C | NCBI36 |
NG_031998.1:g.20437T>G , LRG_358:g.20437T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.2072T>G MANE Select | ENSP00000248244.4:p.Leu691Arg | |
ENST00000248244.5:c.2072T>G | ENSP00000248244.4:p.Leu691Arg | |
ENST00000621756.1:c.1574T>G | ENSP00000479467.1:p.Leu525Arg | |
NM_182919.3:c.2072T>G , LRG_358t1:c.2072T>G | NP_891549.1:p.Leu691Arg | |
NM_001385678.1:c.2030T>G | NP_001372607.1:p.Leu677Arg | |
NM_001385679.1:c.1937T>G | NP_001372608.1:p.Leu646Arg | |
NM_001385680.1:c.1430T>G | NP_001372609.1:p.Leu477Arg | |
NM_182919.4:c.2072T>G MANE Select | NP_891549.1:p.Leu691Arg |