HGVS | Genome Assembly |
---|---|
NC_000005.10:g.140114480T>G , CM000667.2:g.140114480T>G | GRCh38 |
NC_000005.9:g.139494065T>G , CM000667.1:g.139494065T>G | GRCh37 |
NC_000005.8:g.139474249T>G | NCBI36 |
NG_041813.1:g.5358T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000331327.5:c.299T>G MANE Select | ENSP00000332706.3:p.Leu100Arg | |
ENST00000505703.2:c.299T>G | ENSP00000498560.1:p.Leu100Arg | |
ENST00000651386.1:c.299T>G | ENSP00000499133.1:p.Leu100Arg | |
ENST00000331327.4:c.299T>G | ENSP00000332706.3:p.Leu100Arg | |
NM_005859.4:c.299T>G | NP_005850.1:p.Leu100Arg | |
NM_005859.5:c.299T>G MANE Select | NP_005850.1:p.Leu100Arg |