HGVS | Genome Assembly |
---|---|
NC_000001.11:g.204155039T>G , CM000663.2:g.204155039T>G | GRCh38 |
NC_000001.10:g.204124167T>G , CM000663.1:g.204124167T>G | GRCh37 |
NC_000001.9:g.202390790T>G | NCBI36 |
NG_012122.1:g.16299A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000272190.9:c.1198A>C MANE Select | ENSP00000272190.8:p.Ile400Leu | |
ENST00000638118.1:c.1084A>C | ENSP00000490307.1:p.Ile362Leu | |
ENST00000272190.8:c.1198A>C | ENSP00000272190.8:p.Ile400Leu | |
NM_000537.3:c.1198A>C | NP_000528.1:p.Ile400Leu | |
NM_000537.4:c.1198A>C MANE Select | NP_000528.1:p.Ile400Leu |