HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24178409A>C , CM000668.2:g.24178409A>C | GRCh38 |
NC_000006.11:g.24178637A>C , CM000668.1:g.24178637A>C | GRCh37 |
NC_000006.10:g.24286616A>C | NCBI36 |
NG_012829.1:g.184644T>G | |
NG_012829.2:g.209884T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378454.8:c.1247T>G MANE Select | ENSP00000367715.3:p.Leu416Arg | |
ENST00000378450.6:c.506T>G | ENSP00000367711.3:p.Leu169Arg | |
ENST00000378454.7:c.1247T>G | ENSP00000367715.3:p.Leu416Arg | |
NM_001195610.1:c.1247T>G | NP_001182539.1:p.Leu416Arg | |
NM_016356.4:c.1247T>G | NP_057440.2:p.Leu416Arg | |
NM_016356.5:c.1247T>G MANE Select | NP_057440.2:p.Leu416Arg | |
NM_001195610.2:c.1247T>G | NP_001182539.1:p.Leu416Arg |