HGVS | Genome Assembly |
---|---|
NC_000001.11:g.204159532T>G , CM000663.2:g.204159532T>G | GRCh38 |
NC_000001.10:g.204128660T>G , CM000663.1:g.204128660T>G | GRCh37 |
NC_000001.9:g.202395283T>G | NCBI36 |
NG_012122.1:g.11806A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000272190.9:c.556A>C MANE Select | ENSP00000272190.8:p.Met186Leu | |
ENST00000638118.1:c.442A>C | ENSP00000490307.1:p.Met148Leu | |
ENST00000272190.8:c.556A>C | ENSP00000272190.8:p.Met186Leu | |
NM_000537.3:c.556A>C | NP_000528.1:p.Met186Leu | |
NM_000537.4:c.556A>C MANE Select | NP_000528.1:p.Met186Leu |