HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110593202A>G , CM000672.2:g.110593202A>G | GRCh38 |
NC_000010.10:g.112352960A>G , CM000672.1:g.112352960A>G | GRCh37 |
NC_000010.9:g.112342950A>G | NCBI36 |
NG_012217.1:g.30512A>G , LRG_774:g.30512A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.2587A>G | ||
ENST00000692792.1:n.2061A>G | ||
ENST00000361804.5:c.1942A>G MANE Select | ENSP00000354720.5:p.Met648Val | |
ENST00000361804.4:c.1942A>G | ENSP00000354720.4:p.Met648Val | |
NM_005445.3:c.1942A>G , LRG_774t1:c.1942A>G | NP_005436.1:p.Met648Val | |
NM_005445.4:c.1942A>G MANE Select | NP_005436.1:p.Met648Val |